المؤلفون: Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G, Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne-Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L, Mefford, Heather C, Myers, Candace T, Howell, Katherine B, Rodríguez-Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F, de Wit, Marie Claire Y, Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E, Kabashi, Edor, Nabbout, Rima

المساهمون: UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

المصدر: Epilepsia, Vol. 61, no.11, p. 2461-2473 (2020)

مصطلحات موضوعية: Adolescent, Adult, Brain Diseases, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsy, Female, Genetic Variation, Humans, Infant, Male, Retrospective Studies, Shab Potassium Channels, Time Factors, Treatment Outcome, Young Adult, autism spectrum disorders, developmental and epileptic encephalopathy, developmental encephalopathy, drug-resistant epilepsy, potassium channels, sudden unexpected death in epilepsy

العلاقة: boreal:250489; http://hdl.handle.net/2078.1/250489Test; info:pmid/32954514; urn:ISSN:0013-9580; urn:EISSN:1528-1167

الإتاحة: https://doi.org/10.1111/epi.16679Test
http://hdl.handle.net/2078.1/250489Test

المؤلفون: Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril, Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, Macnamara, Ellen F., Mac-Rae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan

المساهمون: Clinical Genetics, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ANS - Complex Trait Genetics

المصدر: Human Genetics, 140(7), 1109-1120. Springer-Verlag
Human genetics, 140(7), 1109-1120. Springer Verlag
Human Genetics

مصطلحات موضوعية: Male, Adolescent, Mutation, Missense, Medizin, Nerve Tissue Proteins, Biology, Frameshift mutation, Chromodomain, Cohort Studies, Young Adult, Epilepsy, Neurodevelopmental disorder, Catalytic Domain, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Exome sequencing, Original Investigation, Genes, Dominant, DNA Helicases, medicine.disease, Pedigree, Neurodevelopmental Disorders, Child, Preschool, Speech delay, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321da32d9079b47b76eed035219d68b2Test
https://doi.org/10.1007/s00439-021-02283-2Test

المؤلفون: Matz, Melissa, Coleman, Michel P, Carreira, Helena, Salmerón, Diego, Chirlaque, Maria Dolores, Allemani, Claudia, Bouzbid, S., Hamdi-Chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S. H., El Mistiri, M. M., Bayo, S., Malle, B., Manraj, S. S., Sewpaul-Sungkur, R., Fabowale, A., Ogunbiyi, O. J., BRADSHAW, JULIE DEBORAH, Somdyala, N. I. M., Stefan, D. C., Abdel-Rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M. S., Laura, E. A., Espinola, S. B., Calabrano, G. H., Carballo Quintero, B., Fita, R., Garcilazo, D. A., Giacciani, P. L., Diumenjo, M. C., Laspada, W. D., Green, M. A., Lanza, M. F., Ibañez, S. G., Lima, C. A., Lobo de Oliveira, E., OFFIN, Daniel Clyde, Scandiuzzi, C., De Souza, P. C. F., Melo, C. D., Del Pino, K., Laporte, C., Curado, M. P., de Oliveira, J. C., Veneziano, C. L. A., Veneziano, D. B., Latorre, M. R. D. O., Tanaka, L. F., Azevedo e Silva, G., Galaz, J. C., Moya, J. A., Herrmann, D. A., Vargas, S., Herrera, V. M., Uribe, C. J., Bravo, L. E., Arias-Ortiz, N. E., Jurado, D. M., Yépez, M. C., Galán, Y. H., Torres, P., Martínez-Reyes, F., Pérez-Meza, M. L., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J. G., Torres-Cintrón, C. R., Tortolero-Luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A. J., Woods, R. R., Noonan, G., Turner, D., Kumar, E., Zhang, B., McCrate, F. R., Ryan, S., Hannah, H., Dewar, R. A. D., MacIntyre, M., Lalany, A., RUTA, Mara, Marrett, L., Nishri, D. E., McClure, C., Vriends, K. A., Bertrand, C., Louchini, R., Robb, K. I., Stuart-Panko, H., Demers, S., Wright, S., George, J. T., Shen, X., Brockhouse, J. T., O'Brien, D. K., Ward, K. C., Almon, L., Bates, J., Rycroft, R., Mueller, L., Phillips, C., Brown, H., Cromartie, B., Schwartz, A. G., Vigneau, F., MacKinnon, J. A., Wohler, B., Bayakly, A. R., Clarke, C. A., Glaser, S. L., West, D., Green, M. D., Hernandez, B. Y., Johnson, C. J., Jozwik, D., Charlton, M. E., Lynch, C. F., Huang, B., Tucker, T. C., Deapen, D., Liu, L., Hsieh, M. C., Wu, X. C., Stern, K., Gershman, S. T., Knowlton, R. C., Alverson, J., Copeland, G. E., Rogers, D. B., Lemons, D., Williamson, L. L., Hood, M., Hosain, G. M., Rees, J. R., Pawlish, K. S., Stroup, A., Key, C., Wiggins, C., Kahn, A. R., Schymura, M. J., Leung, G., Rao, C., Giljahn, L., Warther, B., Pate, A., Patil, M., Schubert, S. S., Rubertone, J. J., Slack, S. J., Fulton, J. P., Rousseau, D. L., Janes, T. A., Schwartz, S. M., Bolick, S. W., Hurley, D. M., Richards, J., Whiteside, M. A., Nogueira, L. M., Herget, K., Sweeney, C., Martin, J., Wang, S., Harrelson, D. G., Keitheri Cheteri, M. B., Farley, S., Hudson, A. G., Borchers, R., Stephenson, L., Espinoza, J. R., Weir, H. K., Edwards, B. K., Wang, N., Yang, L., Chen, J. S., Song, G. H., Gu, X. P., Zhang, P., Ge, H. M., Zhao, D. L., Zhang, J. H., Zhu, F. D., Tang, J. G., Shen, Y., WANG, JIANYE, Li, Q. L., Yang, X. P., Dong, J., LI, WEI, Cheng, L. P., Chen, J. G., Huang, Q. H., Huang, S. Q., Guo, G. P., Wei, K., Chen, W. Q., Zeng, H., Demetriou, A. V., Pavlou, P., Mang, W. K., Ngan, K. C., Kataki, A. C., Krishnatreya, M., Jayalekshmi, P. A., Sebastian, P., Sapkota, S. D., Verma, Y., Nandakumar, A., Suzanna, E., Keinan-Boker, L., Silverman, B. G., ITO, WILLIAM HIDEKI, Nakagawa, H., Hattori, M., Kaizaki, Y., Sugiyama, H., Utada, M., Katayama, K., Narimatsu, H., Kanemura, S., Koike, T., Miyashiro, I., Yoshii, M., Oki, I., Shibata, A., Matsuda, T., Nimri, O., Ab Manan, A., Bhoo-Pathy, N., Tuvshingerel, S., Chimedsuren, O., Al Khater, A. H. M., Al-Eid, H., Jung, K. W., Won, Y. J., Chiang, C. J., Lai, M. S., Suwanrungruang, K., Wiangnon, S., Daoprasert, K., Pongnikorn, D., Geater, S. L., Sriplung, H., Eser, S., Yakut, C. I., Hackl, M., Mühlböck, H., Oberaigner, W., Zborovskaya, A. A., Aleinikova, O. V., Henau, K., Van Eycken, L., Dimitrova, N., Valerianova, Z., Šekerija, M., Zvolský, M., Engholm, G., Storm, H., Innos, K., Mägi, M., Malila, N., Seppä, K., Jégu, J., Velten, M., Cornet, E., Troussard, X., Bouvier, A. M., Faivre, J., Guizard, A. V., Bouvier, V., Launoy, G., Arveux, P., Maynadié, M., Mounier, M., Fournier, E., Woronoff, A. S., Daoulas, M., Clavel, J., Le Guyader-Peyrou, S., Monnereau, A., Trétarre, B., Colonna, M., Cowppli-Bony, A., Molinié, F., Bara, S., Degré, D., Ganry, O., Lapôtre-Ledoux, B., Grosclaude, P., Estève, J., Bray, F., Piñeros, M., Sassi, F., Stabenow, R., Eberle, A., Erb, C., Nennecke, A., Kieschke, J., Sirri, E., Kajueter, H., Emrich, K., Zeissig, S. R., Holleczek, B., Eisemann, N., Katalinic, A., Brenner, H., Asquez, R. A., Kumar, V., Ólafsdóttir, E. J., Tryggvadóttir, L., Comber, H., Walsh, P. M., Sundseth, H., Devigili, E., Mazzoleni, G., Giacomin, A., Bella, F., Castaing, M., Sutera, A., GOLA, GIAN LUIGI, Ferretti, S., Serraino, D., Zucchetto, A., Lillini, R., Vercelli, M., Busco, S., Pannozzo, F., Vitarelli, S., Ricci, P., Pascucci, C., Autelitano, M., Cirilli, C., Federico, M., Fusco, M., Vitale, M. F., Usala, M., Cusimano, R., Mazzucco, W., Michiara, M., Sgargi, P., Maule, M. M., Sacerdote, C., Tumino, R., DI FELICE, Enrico, VICENTINI, MONICA, Falcini, F., Cremone, L., BUDRONI, Erica Maria Sebastiana, Cesaraccio, R., Contrino, M. L., Tisano, F., Fanetti, A. C., Maspero, S., Candela, G., Scuderi, T., Gentilini, M. A., Piffer, S., Rosso, S., SACCHETTO, LIDIA, Caldarella, A., La Rosa, F., Stracci, F., Contiero, P., Tagliabue, G., Dei Tos, A. P., Zorzi, M., Zanetti, R., Baili, P., Berrino, F., Gatta, G., SANT'UNIONE, Marco, Capocaccia, R., De Angelis, R., Liepina, E., Maurina, A., Smailyte, G., Agius, D., Calleja, N., Siesling, S., Visser, O., Larønningen, S., Møller, B., Dyzmann-Sroka, A., Trojanowski, M., Góźdż, S., Mężyk, R., Grądalska-Lampart, M., Radziszewska, A. U., Didkowska, J. A., Wojciechowska, U., Błaszczyk, J., Kępska, K., Bielska-Lasota, M., Kwiatkowska, K., Forjaz, G., Rego, R. A., Bastos, J., Silva, M. A., Antunes, L., Bento, M. J., Mayer-da-Silva, A., Miranda, A., Coza, D., Todescu, A. I., Valkov, M. Y., Adamcik, J., Safaei Diba, C., Primic-Žakelj, M., Žagar, T., Stare, J., Almar, E., Mateos, A., Quirós, J. R., Bidaurrazaga, J., Larrañaga, N., Díaz García, J. M., Marcos, A. I., Marcos-Gragera, R., Vilardell Gil, M. L., Molina, E., Sánchez, M. J., Franch Sureda, P., Ramos Montserrat, M., Chirlaque, M. D., Navarro, C., Ardanaz, E. E., Moreno-Iribas, C. C., Fernández-Delgado, R., Peris-Bonet, R., Galceran, J., Khan, S., Lambe, M., Camey, B., Bouchardy, C., Usel, M., Ess, S. M., HERRMANN, CARL MICHAEL, Bulliard, J. L., Maspoli-Conconi, M., Frick, H., Kuehni, C. E., Schindler, M., Bordoni, A., Spitale, A., Chiolero, A., Konzelmann, I., Dehler, S. I., Matthes, K. L., Rashbass, J., Stiller, C. A., Fitzpatrick, D., Gavin, A., Bannon, F., Black, R. J., Brewster, D. H., Huws, D. W., White, C., Finan, P., Allemani, C., Bonaventure, A., Carreira, H., Coleman, M. P., DI CARLO, VIRGINIA, Harewood, R., Liu, K., Matz, M., Montel, L., Nikšić, M., Rachet, B., Sanz, N., Spika, D., Stephens, R., Peake, M., Chalker, E., Newman, L., Baker, D., Soeberg, M. J., Aitken, J., DEAVER, Scott Charles, Stokes, B. C., Venn, A., Farrugia, H., Giles, G. G., Threlfall, T., Currow, D., You, H., Hendrix, J., Lewis, C.

المساهمون: Matz, Melissa*, Coleman, Michel P, Carreira, Helena, Salmerón, Diego, Chirlaque, Maria Dolore, Allemani, Claudia, Bouzbid, S., Hamdi-Chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S.H., El Mistiri, M.M., Bayo, S., Malle, B., Manraj, S.S., Sewpaul-Sungkur, R., Fabowale, A., Ogunbiyi, O.J., Bradshaw, D., Somdyala, N.I.M., Stefan, D.C., Abdel-Rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M.S., Laura, E.A., Espinola, S.B., Calabrano, G.H., Carballo Quintero, B., Fita, R., Garcilazo, D.A., Giacciani, P.L., Diumenjo, M.C., Laspada, W.D., Green, M.A., Lanza, M.F., Ibañez, S.G., Lima, C.A., Lobo de Oliveira, E., Daniel, C., Scandiuzzi, C., De Souza, P.C.F., Melo, C.D., Del Pino, K., Laporte, C., Curado, M.P., de Oliveira, J.C., Veneziano, C.L.A., Veneziano, D.B., Latorre, M.R.D.O., Tanaka, L.F., Azevedo e Silva, G., Galaz, J.C., Moya, J.A., Herrmann, D.A., Vargas, S., Herrera, V.M., Uribe, C.J., Bravo, L.E., Arias-Ortiz, N.E., Jurado, D.M., Yépez, M.C., Galán, Y.H., Torres, P., Martínez-Reyes, F., Pérez-Meza, M.L., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J.G., Torres-Cintrón, C.R., Tortolero-Luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A.J., Woods, R.R., Noonan, G., Turner, D., Kumar, E., Zhang, B., McCrate, F.R., Ryan, S., Hannah, H., Dewar, R.A.D., MacIntyre, M., Lalany, A., Ruta, M., Marrett, L., Nishri, D.E., McClure, C., Vriends, K.A., Bertrand, C., Louchini, R., Robb, K.I., Stuart-Panko, H.

مصطلحات موضوعية: epidemiology, histology, morphology, ovarian cancer, stage, survival, Adolescent, Adult, Aged, 80 and over, Female, Human, Middle Aged, Neoplasm Staging, Ovarian Neoplasm, Oncology, Obstetrics and Gynecology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27919574; info:eu-repo/semantics/altIdentifier/wos/WOS:000392885200031; volume:144; issue:2; firstpage:396; lastpage:404; numberofpages:9; journal:GYNECOLOGIC ONCOLOGY; http://hdl.handle.net/2318/1681267Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007447735; http://www.elsevier.com/inca/publications/store/6/2/2/8/4/0/index.httTest

الإتاحة: https://doi.org/10.1016/j.ygyno.2016.11.019Test
http://hdl.handle.net/2318/1681267Test
http://www.elsevier.com/inca/publications/store/6/2/2/8/4/0/index.httTest

المؤلفون: Matz, Melissa, Coleman, Michel P, Sant, Milena, Chirlaque, Maria Dolores, Visser, Otto, Gore, Martin, Allemani, Claudia, Bouzbid, S., Hamdi-Chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S. H., C. Stefan, D., El Mistiri, M. M., Bayo, S., Malle, B., Manraj, S. S., Sewpaul-Sungkur, R., Fabowale, A., Ogunbiyi, O. J., Bradshaw, D., Somdyala, N. I. M., Abdel-Rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M. S., Laura, E. A., Espinola, S. B., Calabrano, G. H., Carballo Quintero, B., Fita, R., Garcilazo, D. A., Giacciani, P. L., Diumenjo, M. C., Laspada, W. D., Green, M. A., Lanza, M. F., Ibañez, S. G., Lima, C. A., Lobo de Oliveira, E., Daniel, C., Scandiuzzi, C., De Souza, P. C. F., Melo, C. D., Del Pino, K., Laporte, C., Curado, M. P., de Oliveira, J. C., Veneziano, C. L. A., Veneziano, D. B., Alexandre, T. S., Verdugo, A. S., Azevedo e Silva, G., Galaz, J. C., Moya, J. A., Herrmann, D. A., Vargas, S., Herrera, V. M., Uribe, C. J., Bravo, L. E., Arias-Ortiz, N. E., Jurado, D. M., Yépez, M. C., Galán, Y. H., Torres, P., Martínez-Reyes, F., Pérez-Meza, M. L., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J. G., Torres-Cintrón, C. R., Tortolero-Luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A. J., Woods, R. R., Noonan, G., Turner, D., Kumar, E., Zhang, B., McCrate, F. R., Ryan, S., Hannah, H., Dewar, R. A. D., MacIntyre, M., Lalany, A., Ruta, M., Marrett, L., Nishri, D. E., McClure, C., Vriends, K. A., Bertrand, C., Louchini, R., Robb, K. I., Stuart-Panko, H., Demers, S., Wright, S., George, J. T., Shen, X., Brockhouse, J. T., O'Brien, D. K., Ward, K. C., Almon, L., Bates, J., Rycroft, R., Mueller, L., Phillips, C., Brown, H., Cromartie, B., Schwartz, A. G., Vigneau, F., MacKinnon, J. A., Wohler, B., Bayakly, A. R., Clarke, C. A., Glaser, S. L., West, D., Green, M. D., Hernandez, B. Y., Johnson, C. J., Jozwik, D., Charlton, M. E., Lynch, C. F., Huang, B., Tucker, T. C., Deapen, D., Liu, L., Hsieh, M. C., Wu, X. C., Stern, K., Gershman, S. T., Knowlton, R. C., Alverson, J., Copeland, G. E., Rogers, D. B., Lemons, D., Williamson, L. L., Hood, M., Hosain, G. M., Rees, J. R., Pawlish, K. S., Stroup, A., Key, C., Wiggins, C., Kahn, A. R., Schymura, M. J., Leung, G., Rao, C., Giljahn, L., Warther, B., Pate, A., Patil, M., Schubert, S. S., Rubertone, J. J., Slack, S. J., Fulton, J. P., Rousseau, D. L., Janes, T. A., Schwartz, S. M., Bolick, S. W., Hurley, D. M., Richards, J., Whiteside, M. A., Nogueira, L. M., Herget, K., Sweeney, C., Martin, J., Wang, S., Harrelson, D. G., Keitheri Cheteri, M. B., Farley, S., Hudson, A. G., Borchers, R., Stephenson, L., Espinoza, J. R., Weir, H. K., Edwards, B. K., Wang, N., Yang, L., Chen, J. S., Song, G. H., Gu, X. P., Zhang, P., Ge, H. M., Zhao, D. L., Zhang, J. H., Zhu, F. D., Tang, J. G., Shen, Y., Wang, J., Li, Q. L., Yang, X. P., Dong, J., Li, W., Cheng, L. P., Chen, J. G., Huang, Q. H., Huang, S. Q., Guo, G. P., Wei, K., Chen, W. Q., Zeng, H., Demetriou, A. V., Pavlou, P., Mang, W. K., Ngan, K. C., Kataki, A. C., Krishnatreya, M., Jayalekshmi, P. A., Sebastian, P., Sapkota, S. D., Verma, Y., Nandakumar, A., Suzanna, E., Keinan-Boker, L., Silverman, B. G., Ito, H., Nakagawa, H., Hattori, M., Kaizaki, Y., Sugiyama, H., Utada, M., Katayama, K., Narimatsu, H., Kanemura, S., Koike, T., Miyashiro, I., Yoshii, M., Oki, I., Shibata, A., Matsuda, T., Nimri, O., Ab Manan, A., Bhoo Pathy, N., Chimedsuren, O., Tuvshingerel, S., Al Khater, A. H. M., Al-Eid, H., Jung, K. W., Won, Y. J., Chiang, C. J., Lai, M. S., Suwanrungruang, K., Wiangnon, S., Daoprasert, K., Pongnikorn, D., Geater, S. L., Sriplung, H., Eser, S., Yakut, C. I., Hackl, M., Mühlböck, H., Oberaigner, W., Zborovskaya, A. A., Aleinikova, O. V., Henau, K., Van Eycken, L., Dimitrova, N., Valerianova, Z., Šekerija, M., Zvolský, M., Engholm, G., Storm, H., Innos, K., Mägi, M., Malila, N., Seppä, K., Jégu, J., Velten, M., Cornet, E., Troussard, X., Bouvier, A. M., Faivre, J., Guizard, A. V., Bouvier, V., Launoy, G., Arveux, P., Maynadié, M., Mounier, M., Fournier, E., Woronoff, A. S., Daoulas, M., Clavel, J., Le Guyader-Peyrou, S., Monnereau, A., Trétarre, B., Colonna, M., Cowppli-Bony, A., Molinié, F., Bara, S., Degré, D., Ganry, O., Lapôtre-Ledoux, B., Grosclaude, P., Estève, J., Bray, F., Piñeros, M., Sassi, F., Stabenow, R., Eberle, A., Erb, C., Nennecke, A., Kieschke, J., Sirri, E., Kajueter, H., Emrich, K., Zeissig, S. R., Holleczek, B., Eisemann, N., Katalinic, A., Brenner, H., Asquez, R. A., Kumar, V., Ólafsdóttir, E. J., Tryggvadóttir, L., Comber, H., Walsh, P. M., Sundseth, H., Devigili, E., Mazzoleni, G., Giacomin, A., Bella, F., Castaing, M., Sutera, A., Gola, G., Ferretti, S., Serraino, D., Zucchetto, A., Lillini, R., Vercelli, M., Busco, S., Pannozzo, F., Vitarelli, S., Ricci, P., Pascucci, C., Autelitano, M., Cirilli, C., Federico, M., Fusco, M., Vitale, M. F., Usala, M., Cusimano, R., Mazzucco, W., Michiara, M., Sgargi, P., Maule, M. M., Sacerdote, C., Tumino, R., Di Felice, E., Vicentini, M., Falcini, F., Cremone, L., Budroni, M., Cesaraccio, R., Contrino, M. L., Tisano, F., Fanetti, A. C., Maspero, S., Candela, G., Scuderi, T., Gentilini, M. A., Piffer, S., Rosso, S., Sacchetto, L., Caldarella, A., La Rosa, F., Stracci, F., Contiero, P., Tagliabue, G., Dei Tos, A. P., Zorzi, M., Zanetti, R., Baili, P., Berrino, F., Gatta, G., Sant, M., Capocaccia, R., De Angelis, R., Liepina, E., Maurina, A., Smailyte, G., Agius, D., Calleja, N., Siesling, S., Visser, O., Larønningen, S., Møller, B., Dyzmann-Sroka, A., Trojanowski, M., Góźdż, S., Grądalska-Lampart, R. Mężyk, Radziszewska, A. U., Didkowska, J. A., Wojciechowska, U., Błaszczyk, J., Kępska, K., Bielska-Lasota, M., Kwiatkowska, K., Forjaz, G., Rego, R. A., Bastos, J., Silva, M. A., Antunes, L., Bento, M. J., Mayer-da-Silva, A., Miranda, A., Coza, D., Todescu, A. I., Valkov, M. Y., Adamcik, J., Safaei Diba, C., Primic-Žakelj, M., Žagar, T., Stare, J., Almar, E., Mateos, A., Quirós, J. R., Bidaurrazaga, J., Larrañaga, N., Díaz García, J. M., Marcos, A. I., Marcos-Gragera, R., Vilardell Gil, M. L., Molina, E., Sánchez, M. J., Franch Sureda, P., RamosMontserrat, M., Chirlaque, M. D., Navarro, C., Ardanaz, E. E., Moreno-Iribas, C. C., Fernández-Delgado, R., Peris-Bonet, R., Galceran, J., Khan, S., Lambe, M., Camey, B., Bouchardy, C., Usel, M., Ess, S. M., Herrmann, C., Bulliard, J. L., Maspoli-Conconi, M., Frick, H., Kuehni, C. E., Schindler, M., Bordoni, A., Spitale, A., Chiolero, A., Konzelmann, I., Dehler, S. I., Matthes, K. L., Rashbass, J., Stiller, C., Fitzpatrick, D., Gavin, A., Bannon, F., Black, R. J., Brewster, D. H., Huws, D. W., White, C., Finan, P., Allemani, C., Bonaventure, A., Carreira, H., Coleman, M. P., Di Carlo, V., Harewood, R., Liu, K., Matz, M., Montel, L., Nikšić, M., Rachet, B., Sanz, N., Spika, D., Stephens, R., Peake, M., Chalker, E., Newman, L., Baker, D., Soeberg, M. J., Aitken, J., Scott, C., Stokes, B. C., Venn, A., Farrugia, H., Giles, G. G., Threlfall, T., Currow, D., You, H., Hendrix, J., Lewis, C.

المساهمون: Matz, Melissa*, Coleman, Michel P, Sant, Milena, Chirlaque, Maria Dolore, Visser, Otto, Gore, Martin, Allemani, Claudia, Bouzbid, S., Hamdi-Chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S.H., C.Stefan, D., El Mistiri, M.M., Bayo, S., Malle, B., Manraj, S.S., Sewpaul-Sungkur, R., Fabowale, A., Ogunbiyi, O.J., Bradshaw, D., Somdyala, N.I.M., Abdel-Rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M.S., Laura, E.A., Espinola, S.B., Calabrano, G.H., Carballo Quintero, B., Fita, R., Garcilazo, D.A., Giacciani, P.L., Diumenjo, M.C., Laspada, W.D., Green, M.A., Lanza, M.F., Ibañez, S.G., Lima, C.A., Lobo de Oliveira, E., Daniel, C., Scandiuzzi, C., De Souza, P.C.F., Melo, C.D., Del Pino, K., Laporte, C., Curado, M.P., de Oliveira, J.C., Veneziano, C.L.A., Veneziano, D.B., Alexandre, T.S., Verdugo, A.S., Azevedo e Silva, G., Galaz, J.C., Moya, J.A., Herrmann, D.A., Vargas, S., Herrera, V.M., Uribe, C.J., Bravo, L.E., Arias-Ortiz, N.E., Jurado, D.M., Yépez, M.C., Galán, Y.H., Torres, P., Martínez-Reyes, F., Pérez-Meza, M.L., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J.G., Torres-Cintrón, C.R., Tortolero-Luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A.J., Woods, R.R., Noonan, G., Turner, D., Kumar, E., Zhang, B., McCrate, F.R., Ryan, S., Hannah, H., Dewar, R.A.D., MacIntyre, M., Lalany, A., Ruta, M., Marrett, L., Nishri, D.E., McClure, C., Vriends, K.A., Bertrand, C., Louchini, R., Robb, K.I.

مصطلحات موضوعية: Epidemiology, Histology, Morphology, Ovarain cancer, Worldwide, Adolescent, Adult, Aged, Female, Human, Middle Aged, Neoplasms, Germ Cell and Embryonal, Glandular and Epithelial, Ovarian Neoplasm, Sex Cord-Gonadal Stromal Tumor, Oncology, Obstetrics and Gynecology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27931752; info:eu-repo/semantics/altIdentifier/wos/WOS:000392885200032; volume:144; issue:2; firstpage:405; lastpage:413; numberofpages:9; journal:GYNECOLOGIC ONCOLOGY; http://hdl.handle.net/2318/1681266Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007602318; http://www.elsevier.com/inca/publications/store/6/2/2/8/4/0/index.httTest

الإتاحة: https://doi.org/10.1016/j.ygyno.2016.10.019Test
http://hdl.handle.net/2318/1681266Test
http://www.elsevier.com/inca/publications/store/6/2/2/8/4/0/index.httTest

المؤلفون: James W. Wheless, Thierry Frebourg, Robert Olaso, Rosemarie Smith, Kelly Nori, François Lecoquierre, Delphine Héron, Roseline Caumes, Anne Boland, Ange-Line Bruel, Candy Kumps, Gaël Nicolas, Sarah Stewart, Sophie Rondeau, Diane Doummar, Marlène Rio, Giulia Barcia, Anne-Marie Guerrot, Gwenaël Le Guyader, Alexandra Afenjar, Sarah Vergult, Karine Poirier, Juliette Coursimault, Jennifer Morrison, Amy Kritzer, Anne-Sophie Alaix, Rebecca Hernan, Anne-Sophie Denommé-Pichon, Sabine Sigaudy, Christine Coubes, Pascale Saugier-Veber, Francisca Millan Zamora, Austin Larson, Michelle M. Morrow, Christine Poitou, Björn Menten, Mathilde Nizon, Thomas Smol, Elise Schaefer, Bénédicte Gérard, Charles Coutton, Salima El Chehadeh, Fanggeng Zou, Stéphanie Valence, Anita Shanmugham, Wendy K. Chung, Bert Callewaert, Christina Kresge, Arnold Munnich, Beth A. Pletcher, Laurence Faivre, Estelle Colin, Laurence Colleaux, Patricia G Wheeler, Annelies Dheedene, Frédéric Tran Mau-Them, Jean-François Deleuze, Claude Houdayer, Jeanne Amiel, Frédéric Bilan, Marine Tessarech, Bertrand Isidor, Guillaume Jouret, Cyril Mignot, Benjamin Cogné, Shuxi Liu, Boris Keren, Françoise Devillard, Catherine Schramm, Margaret Helm

المساهمون: Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), GeneDx [Gaithersburg, MD, USA], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de génétique médicale d’Alsace, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Sorbonne Université (SU), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Grenoble, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ghent University Hospital, Columbia University Irving Medical Center (CUIMC), University of Colorado Anschutz [Aurora], University of Tennessee System, Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers), Université de Lille, Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maine Medical Center, Arnold Palmer Hospital, Boston Children's Hospital, National Center of Genetics, Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: Human Genetics
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩

مصطلحات موضوعية: Male, Bioinformatics, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, MESH: Child, Intellectual disability, Missense mutation, MESH: Obesity, MESH: Genetic Variation, MESH: Nerve Tissue Proteins, Child, Genetics (clinical), MESH: Genetic Association Studies, MESH: Heterozygote, 0303 health sciences, MESH: Transcription Factors, MESH: Infant, 3. Good health, Phenotype, MESH: Feeding and Eating Disorders, MESH: Young Adult, Child, Preschool, MESH: Epilepsy, Learning disability, Female, medicine.symptom, Adult, Heterozygote, Adolescent, Language delay, Nerve Tissue Proteins, Biology, MESH: Phenotype, MESH: Language Development Disorders, Feeding and Eating Disorders, Young Adult, 03 medical and health sciences, Genetics, medicine, Humans, Language Development Disorders, Obesity, Genetic Association Studies, 030304 developmental biology, MESH: Neurodevelopmental Disorders, MESH: Adolescent, MESH: Humans, MESH: Child, Preschool, Genetic Variation, Infant, MESH: Adult, medicine.disease, Human genetics, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Autism, MESH: Female, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d62d99917d3e3b78e73c61b6c495303Test
https://hal.science/hal-03820933Test

المؤلفون: L, Chapron, F, Le Guyader, P-E, Arcade, F, Mouriaux

المصدر: Journal francais d'ophtalmologie. 45(7)

مصطلحات موضوعية: Retinal Diseases, Astrocytes, Hamartoma, Humans, Female, Fluorescein Angiography, Tomography, Optical Coherence, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5c586a4593cf3476b6f349b6b4113620Test
https://pubmed.ncbi.nlm.nih.gov/35599054Test

المؤلفون: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler

المساهمون: Division of Medical Genetics [Seattle], University of Washington [Seattle], Détoxication et réparation tissulaire, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Central South University [Changsha], Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), Center for Integrative Brain Research, Ambry Genetics [Aliso Viejo, CA, USA], China Agricultural University (CAU), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Kennedy Krieger Institute [Baltimore], Institute of Human Genetics [Erlangen, Allemagne], Universität Leipzig, Yale University [New Haven], Oregon Health and Science University [Portland] (OHSU), McGovern Medical School [Houston, Texas], Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Indiana University [South Bend], The University of Texas at San Antonio (UTSA), New York State Psychiatric Institute, Columbia University [New York], Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], CHU Strasbourg, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Stanford University School of Medicine [CA, USA], Memorial Hermann Heart and Vascular Institute [Houston, TX, USA], University of Central Florida [Orlando] (UCF), Department of Pediatrics [Univ California San Diego] (UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC), University of Colorado Anschutz [Aurora], Department of Chemistry and Biochemistry [Bern], University of Bern, Columbia University Irving Medical Center (CUIMC), Signal Processing Lab [Boise - Idaho], Boise State University, University Hospitals Case Medical Center (CLEVELAND - UHCMC), University Hospitals Case Medical Center, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Psychology [University North Carolina Wilmington], University of North Carolina [Wilmington] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Institut d'histoire du temps présent (IHTP), Centre National de la Recherche Scientifique (CNRS), University of Massachusetts Medical School [Worcester] (UMASS), University of Massachusetts System (UMASS), Queen's University [Kingston, Canada], Department of Molecular Genetics [Toronto], University of Toronto, GeneDx [Gaithersburg, MD, USA], Department of Genome Sciences [Seattle] (GS), Department of Pediatrics [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford School of Medicine [Stanford], Stanford University, University of California (UC), COMSATS Institute of Information Technology [Islamabad] (CIIT), Boston Children's Hospital, University of California [Los Angeles] (UCLA), Radboud University Medical Center [Nijmegen], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Psychiatry, Seattle University [Seattle], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Leipzig [Leipzig], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Pediatrics [san Diego], UC San Diego School of Medicine, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of California

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Adolescent, Autism Spectrum Disorder, autism spectrum disorders, Nerve Tissue Proteins, Neuroimaging, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, ZNF292, Intellectual disability, mental disorders, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, Zinc finger, next generation sequencing, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, next-generation sequencing, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Carrier Proteins, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbefTest
http://europepmc.org/articles/PMC7060121Test

المؤلفون: Guillaume Couillez, Julien Maizel, Thomas Boyer, Jean-Luc Schmit, Ophélie Evrard, Etienne Brochot, Alexis Caulier, Catherine François, Rémy Nyga, Chloé Sauzay, Claire Andrejak, Sandrine Castelain, Loïc Garçon, Maïlys Le Guyader

المساهمون: DESSAIVRE, Louise, WEB Architecture x Semantic WEB x WEB of Data (WEB3), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), Université de Picardie Jules Verne (UPJV), CHU Amiens-Picardie, Agents infectieux, résistance et chimiothérapie - UR UPJV 4294 (AGIR ), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Eugène Marquis (CRLCC), Chemistry, Oncogenesis, Stress and Signaling (COSS), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Parasitologie-Mycologie [CHRU LIlle], Institut de Microbiologie [CHRU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Virologie [CHU Amiens], Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517 (MP3CV), Laboratoire d'Hématologie [CHU Amiens]

المصدر: Current Research in Translational Medicine
Current Research in Translational Medicine, 2021, 69 (2), pp.#103284. ⟨10.1016/j.retram.2021.103284⟩
CURRENT RESEARCH IN TRANSLATIONAL MEDICINE
CURRENT RESEARCH IN TRANSLATIONAL MEDICINE, 2021, 69 (2), ⟨10.1016/j.retram.2021.103284⟩

مصطلحات موضوعية: Adult, Male, Patient Transfer, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), [SDV]Life Sciences [q-bio], Risk Assessment, Severity of Illness Index, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, Young Adult, Intensive care, Transfer (computing), Severity of illness, medicine, Humans, Hospital Mortality, Patient transfer, Letter to the Editor, ComputingMilieux_MISCELLANEOUS, Aged, Retrospective Studies, Aged, 80 and over, business.industry, SARS-CoV-2, Sodium, COVID-19, Retrospective cohort study, General Medicine, Middle Aged, Prognosis, Triage, Death, [SDV] Life Sciences [q-bio], Intensive Care Units, Research Design, Emergency medicine, Potassium, Female, France, business, Biomarkers, Blood Chemical Analysis, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d1ec17b88f336e1b9c6ed410fdcb09Test
https://doi.org/10.1016/j.retram.2021.103284Test

المؤلفون: Rima Nabbout, Patrick Berquin, Sylvie Odent, Mathieu Kuchenbuch, Gwenaël Le Guyader, Marieke F. van Dooren, Jamel Chelly, Edor Kabashi, Melanie Jennesson, Giulia Barcia, Cyril Mignot, Tayeb Sekhara, Alexandra Afenjar, Marlène Rio, Anne Rolland, Claude Besmond, Andrés Rodríguez-Sacristán Cascajo, Gaetano Terrone, Isabelle Marey, Boris Keren, Alice Goldenberg, A.S. Lebre, Heather C Mefford, Gaetan Lesca, Anne de Saint Martin, Susanna Negrin, Nathalie Dorison, Hélène Maurey, Agnès Guët, David Geneviève, Marie Claire Y. de Wit, Jeremy L. Freeman, Pierre Meyer, Thierry Billette de Villemeur, Ingrid E. Scheffer, Katherine B. Howell, Anca Nica, Raphael Levy, Martino Montomoli, Renzo Guerrini, Elena Parrini, Candace T. Myers, Bertrand Isidor, Alice Poisson, Marion Gérard, Salima El Chehadeh, Lynette G. Sadleir, Julien Durigneux, Pascal Vrielynck, Amy L Schneider, Emmanuel Scalais, Laurence Hubert, Sophie Dupont, Vesna Brankovic, Damien Lederer, Hervé Isnard, Delphine Breuillard, Claire Bar, Alberto Danieli, Diane Doummar, Arnold Munnich

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, Centre for the Diagnosis and management of genetic psychiatric disorders [Bron] (GénoPsy), Centre Hospitalier le Vinatier [Bron], Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Rouen, Normandie Université (NU), CHU Amiens-Picardie, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Pitié-Salpêtrière [AP-HP], FP7 Ideas: European Research Council, National Health and Medical Research Council, Health Research Council of New Zealand, ANR‐10-IAHU‐01, Agence Nationale de la Recherche, Fondation Bettencourt Schueller, 602531, Seventh Framework Programme, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR‐10IAHU‐01, Agence Nationale de la Recherche, Clinical Genetics, Neurology, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1)

المصدر: Epilepsia
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, Wiley, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, 61(11), 2461-2473. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, autism spectrum disorders, [SDV]Life Sciences [q-bio], Encephalopathy, Severe epilepsy, Imaging data, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Shab Potassium Channels, drug-resistant epilepsy, Intellectual disability, medicine, Missense mutation, Humans, In patient, developmental and epileptic encephalopathy, Child, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Brain Diseases, sudden unexpected death in epilepsy, developmental encephalopathy, business.industry, Genetic Variation, Infant, Cognition, Electroencephalography, medicine.disease, potassium channels, 3. Good health, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3e62c02513d68aa9825d00009bfe7aTest
https://univ-rennes.hal.science/hal-02959318Test

المؤلفون: Tolchin, D, Yeager, JP, Prasad, P, Dorrani, N, Russi, AS, Martinez-Agosto, JA, Haseeb, A, Angelozzi, M, Santen, GWE, Ruivenkamp, C, Mercimek-Andrews, S, Depienne, C, Kuechler, A, Mikat, B, Ludecke, H-J, Bilan, F, Le Guyader, G, Gilbert-Dussardier, B, Keren, B, Heide, S, Haye, D, Van Esch, H, Keldermans, L, Ortiz, D, Lancaster, E, Krantz, ID, Krock, BL, Pechter, KB, Arkader, A, Medne, L, DeChene, ET, Calpena, E, Melistaccio, G, Wilkie, AOM, Suri, M, Foulds, N, Genomics England Research Consortium, Begtrup, A, Henderson, LB, Forster, C, Reed, P, McDonald, MT, McConkie-Rosell, A, Thevenon, J, Le Tanno, P, Coutton, C, Tsai, ACH, Stewart, S, Maver, A, Gorazd, R, Pichon, O, Nizon, M, Cogné, B, Isidor, B, Martin-Coignard, D, Stoeva, R, Lefebvre, V, Le Caignec, C

مصطلحات موضوعية: ADHD, SOX6, SOXopathy, craniosynostosis, developmental delay, dysmorphism, genetic variant, human disease, intellectual disability, osteochondroma, Active Transport, Cell Nucleus, Adolescent, Amino Acid Sequence, Attention Deficit Disorder with Hyperactivity, Base Sequence, Brain, Child, Preschool, Computer Simulation, Craniosynostoses, Female, Genomic Structural Variation, Humans, Infant, Male, Mutation, Missense, Neurodevelopmental Disorders, RNA-Seq

وصف الملف: 830 - 845

العلاقة: Am J Hum Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/66405Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.04.015Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/66405Test