المؤلفون: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert, Cereda, Anna, Cousin, Margot A., Jimenez, Juan C. Del Rey, Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossoy, Sullivan, Jennifer A., Svantnerova, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366

مصطلحات موضوعية: Medicine and Health Sciences, DOSAGE COMPENSATION, TRANSCRIPTIONAL REGULATION, MSL COMPLEX, ACETYLATION, MUTATIONS, DOMAIN, DECAY, MOF, autism, developmental delay, histone acetylation, MSL3, X-linked

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8687772Test; http://hdl.handle.net/1854/LU-8687772Test; http://dx.doi.org/10.1038/s41436-020-00993-yTest; https://biblio.ugent.be/publication/8687772/file/8692632Test

الإتاحة: https://doi.org/10.1038/s41436-020-00993-yTest
https://biblio.ugent.be/publication/8687772Test
http://hdl.handle.net/1854/LU-8687772Test
https://biblio.ugent.be/publication/8687772/file/8692632Test

المؤلفون: Dyment, David A, O'Donnell-Luria, Anne, Agrawal, Pankaj B, Coban Akdemir, Zeynep, Aleck, Kyrieckos A, Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B, Aydin, Hatip, Beggs, Alan H, Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A, Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E, Clericuzio, Carol L, Cox, Gerald F, Curry, Cynthia, de Boer, Elke, de Vries, Bert B A, Dunn, Kathryn, Dutmer, Cullen M, England, Eleina M, Fahrner, Jill A, Geckinli, Bilgen B, Genetti, Casie A, Gezdirici, Alper, Gibson, William T, Gleeson, Joseph G, Greenberg, Cheryl R, Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N, Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L, Lewis, M E Suzanne, Lowry, R Brian, López-Giráldez, Francesc, Matise, Tara C, McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J M, Posey, Jennifer E, Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S, Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L, Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S, Zhang, Yeting, Care4Rare Consortium, Centers for Mendelian Genomics, Boycott, Kym M, Bamshad, Michael J, Nickerson, Deborah A, Blue, Elizabeth E, Innes, A Micheil

المصدر: Pediatrics Research and Scholarship

مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray

العلاقة: https://digitalrepository.unm.edu/peds_pubs/404Test; https://pubmed.ncbi.nlm.nih.gov/33098347Test/

الإتاحة: https://digitalrepository.unm.edu/peds_pubs/404Test
https://pubmed.ncbi.nlm.nih.gov/33098347Test/

المؤلفون: Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

المصدر: The American Journal of Human Genetics ; volume 95, issue 6, page 729-735 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.015Test
https://api.elsevier.com/content/article/PII:S0002929714004637?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929714004637?httpAccept=text/xmlTest

المؤلفون: Leonard, Alexis, Wolff, Johannes, Sengupta, Rajarshi, Marassa, Jayne, Piwnica-Worms, David, Rubin, Joshua, Pollack, Ian, Jakacki, Regina, Butterfield, Lisa, Okada, Hideho, Fangusaro, Jason, Warren, Katherine E., Mullins, Christina, Jürgen, Piek, Julia, Schubert, Friedrich, Classen Carl, Keir, Stephen, Saling, Julia, Roskoski, Martin, Friedman, Henry, Bigner, Darell, Moertel, Christopher, Olin, Michael, Dahlheimer, Tambra, Gustafson, Michael, Sumstad, Darin, McKenna, David, Low, Walter, Nascene, David, Dietz, Allen, Ohlfest, John, Sturm, Dominik, Witt, Hendrik, Hovestadt, Volker, Quan, Dong Anh Khuong, Jones, David T.W., Konermann, Carolin, Pfaff, Elke, Korshunov, Andrey, Rizhova, Marina, Milde, Till, Witt, Olaf, Zapatka, Marc, Collins, V. Peter, Kool, Marcel, Reifenberger, Guido, Lichter, Peter, Lindroth, Anders M., Plass, Christoph, Jabado, Nada, Pfister, Stefan M., Pizer, Barry, Salehzadeh, Alireza, Brodbelt, Andrew, Mallucci, Conor, Brassesco, María, Pezuk, Julia, Morales, Andressa, de Oliveira, Jaqueline, Roberto, Gabriela, Umezawa, Kazuo, Valera, Elvis, Rego, Eduardo, Scrideli, Carlos, Tone, Luiz, Veringa, Susanna J.E., Van Vuurden, Dannis G., Wesseling, Pieter, Vandertop, W. Peter, Noske, David P., Wurdinger, Tom, Kaspers, Gertjan J.L., Hulleman, Esther, Wright, Karen, Broniscer, Alberto, Bendel, Anne, Bowers, Daniel, Crawford, John, Fisher, Paul, Hassall, Tim, Armstrong, Gregory, Baker, Justin, Qaddoumi, Ibrahim, Robinson, Giles, Wetmore, Cynthia, Klimo, Paul, Boop, Frederick, Onar-Thomas, Arzu, Ellison, David, Gajjar, Amar, Cruz, Ofelia, de Torres, Carmen, Suñol, Mariona, Rodriguez, Eva, Alonso, Laura, Parareda, Andreu, Cardesa, Teresa, Salvador, Hector, Celis, Veronica, Guillen, Antonio, Garcia, Gemma, Muchart, Jordi, Trampal, Carlos, Martin, Maria Luisa, Rebollo, Monica, Mora, Jaume, Piotrowski, Anna, Kowalska, Agnes, Coyle, Patricia, Smith, Stuart, Rogers, Hazel, Macarthur, Donald, Grundy, Richard, Puccetti, Diane, Salamat, Shahriar, Kennedy, Tabassum, Patel, Neha, Bradley, Kristin, Casey, Kristin, Iskandar, Bermans, Nakano, Yoshiko, Okada, Keiko, Osugi, Yuko, Yamasaki, Kai, Fujisaki, Hiroyuki, Fukushima, Hiroko, Inoue, Takeshi, Matsusaka, Yasuhiro, Sakamoto, Hiroaki, Hara, Junichi, De Vleeschouwer, Steven, Ardon, Hilko, Van Calenbergh, Frank, Sciot, Raf, Wilms, Guido, Van Loon, Johan, Goffin, Jan, Van Gool, Stefaan, Rusinak, David, Knight, Peter, Onel, Kenan, Wargowski, David, Stettner, Amy, Al-Ghafari, Ayat, Punjaruk, Wiyada, Coyle, Beth, Kerr, Ian, Xipell, Enric, Rodriguez, María, Gonzalez-Huarriz, Marisol, Tuñon, María Teresa, Zazpe, Idoya, Tejada-Solís, Sonia, Díez-Valle, Ricardo, Fueyo, Juan, Gomez-Manzano, Candelaria, Alonso, Marta M., Pastakia, Devang, McCully, Cynthia, Murphy, Robert, Bacher, John, Thomas, Marvin, Steffen-Smith, Emilie, Saleem, Kadharbatcha, Waldbridge, Stuart, Widemann, Brigitte, Warren, Katherine, Miele, Evelina, Buttarelli, Francesca, Arcella, Antonella, Begalli, Federica, Po, Agnese, Baldi, C., Carissimo, G., Antonelli, M., Donofrio, V., Morra, I., Nozza, Paolo, Gulino, Alberto, Giangaspero, Felice, Ferretti, Elisabetta, Elens, Iris, Pauwels, Femke, Fritzell, Sara, Eberstål, Sofia, Sandén, Emma, Visse, Edward, Darabi, Anna, Siesjö, Peter, McDonald, Patrick, Wrogemann, Jens, Krawitz, Sherry, Del Bigio, Marc, Eisenstat, David, Kwiecien, Robert, Pietsch, Torsten, Faldum, Andreas, Kortmann, Rolf-D., Warmuth-Metz, Monica, Rutkowski, Stefan, Slavc, Irene, Kramm, Christof Maria, Uparkar, Urmila, Geyer, Russell, Ermoian, Ralph, Ellenbogen, Richard, Leary, Sarah, Triscott, Joanna, Hu, Kaiji, Fotovati, Abbas, Yip, Stephen, Kast, Richard, Toyota, Brian, Dunn, Sandra, Hegde, Meenakshi, Corder, Amanda, Chow, Kevin, Mukherjee, Malini, Ashoori, Aidin, Brawley, Vita, Heslop, Helen, Gottschalk, Stephen, Yvon, Eric, Ahmed, Nabil, Wong, Tai-Tong, Yang, Feng-Yi, Lu, Maggie, Liang, Hsiang-Fa, Wang, Hsin-Ell, Liu, Ren-Shyan, Teng, Ming-Che, Yen, Chuek-Chuan, Agnihotri, Sameer, Ternamian, Christian, Jones, Chris, Zadeh, Gelareh, Rutka, James, Hawkins, Cynthia, Filipek, Iwona, Drogosiewicz, Monika, Perek-Polnik, Marta, Swieszkowska, Ewa, Baginska, Bozenna Dembowska, Jurkiewicz, Elzbieta, Perek, Danuta, Kuehn, Alexander, Falkenstein, Fabian, Gnekow, Astrid, Kramm, Christof, Brooks, Michael D., Jackson, Erin, Mitra, Robi D., Rubin, Joshua B., Liu, Xiao-Yang, Schwartzentruber, Jeremy, Jones, David T. W., Fontebasso, Adam M., Quang, Dong-Anh Khuong, Albrecht, Steffen, Dong, Zhifeng, Siegel, Peter, Von Diemling, Andreas, Faury, Damien, Tabori, Uri, Majewski, Jacek, Lulla, Rishi, Echevarria, Maria, Alden, Tord, DiPatri, Arthur, Tomita, Tadanori, Goldman, Stewart, Lin, Tong, Merchant, Thomas E., Kocak, Mehmet, Panandiker, Atmaram Pai, Armstrong, Gregory T., Gielen, Gerrit H., Muehlen, Anja zur, Kramm, Christoph, Hubert, Christopher, Ding, Yu, Toledo, Chad, Paddison, Patrick, Olson, James, Nandhabalan, Meera, Bjerke, Lynn, Bax, Dorine, Carvalho, Diana, Bajrami, Illirjana, Ashworth, Alan, Lord, Christopher, Hargrave, Darren, Reis, Rui, Workman, Paul, Little, Suzie, Popov, Sergey, Jury, Alexa, Burford, Anna, Doey, Lawrence, Al-Sarraj, Safa, Jurgensmeier, Juliane, Chen, Lina, Kozarewa, Iwanka, Baker, Suzanne, Perryman, Lara, Box, Gary, Raynaud, Florence, Eccles, Suzanne, Viana-Pereira, Marta, Pereira, Marcia, Forshew, Tim, Tatevossian, Ruth, Sheer, Denise, Pimental, Jose, Pires, Manuel, Sarkar, Chitra, Jha, Prerana, Patrick, Irene Rose Pia, Somasundaram, Kumar, Pathak, Pankaj, Sharma, Mehar Chand, Suri, Vaishali, Suri, Ashish, Gerges, Noha, Haque, Takrima, Nantel, Andre, Lee, Cathy, Chen, James, Venugopal, Chitra, Singhal, Ash, Dunham, Chris, Kerr, John, Verreault, Maite, Wakimoto, Hiro, Jayanthan, Aarthi, Narendran, Aru, Singh, Sheila, Giraud, Géraldine, Holm, Stefan, Gustavsson, Bengt, Kizyma, Roman, Kizyma, Zoryana, Dvornyak, Lesya, Kotsay, Bogdan, Epari, Sridhar, Sharma, Praveen, Gurav, Mamta, Gupta, Tejpal, Shetty, Prakash, Moiyadi, Aliasgar, Kane, Shubhada, Jalali, Rakesh

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

العلاقة: http://neuro-oncology.oxfordjournals.org/cgi/content/short/14/suppl_1/i56Test; http://dx.doi.org/10.1093/neuonc/nos102Test

الإتاحة: https://doi.org/10.1093/neuonc/nos102Test
http://neuro-oncology.oxfordjournals.org/cgi/content/short/14/suppl_1/i56Test

المؤلفون: Hasselblatt, Martin, Kordes, Uwe, Wolff, Johannes, Jeibmann, Astrid, Frühwald, Michael, Paulus, Werner, Isken, Sarah, Siebert, Reiner, Schneppenheim, Reinhard, Benesch, Martin, Fleischhack, Gudrun, Gruhn, Bernd, Schlegel, Paul-Gerhardt, Witt, Olaf, Holter, Wolfgang, Reiter, Alfred, Urban, Christian, Frühwald, Michael C., Lafay-Cousin, Lucie, Huang, Annie, Hawkins, Cynthia, Fryer, Chris, Bouffet, Eric, Kruchko, Carol, Propp, Jennifer, McCarthy, Bridget, Dolecek, Therese, Kerl, Kornelius, Unland, Rebecca, Jürgens, Heribert, Kieran, Mark W., Roberts, Charles W. M., Biegel, Jaclyn A., MacConaill, Laura E., Rich, Benjamin E., Ligon, Keith L., Chi, Susan, Kondo, Akihide, Shimoji, Kazuaki, Ogino, Ikuko, Junya, Fujimura, Sakaguchi, Sachi, Miyajima, Masakazu, Arai, Hajime, Alimova, Irina, Knipstein, Jeffrey, Harris, Peter, Venkataraman, Sujatha, Marquez, Victor, Birks, Diane, Foreman, Nicholas, Vibhakar, Rajeev, Bartelheim, Kerstin, Warmuth-Metz, Monika, Kortmann, Rolf-Dieter, Gerss, Joachim, Frühwald, Michael Christoph, Rizzo, Daniela, Freneaux, Paul, Brisse, Herve, Parfait, Beatrice, Doz, Francois, Dufour, Christelle, Stephan, Jen-Louis, Edan, Christine, Ranchere-Vince, Dominique, Peuchmaur, Michel, Delattre, Olivier, Bourdeaut, Franck, Soh, Shui Yen, Chan, Mei Yoke, Seow, Wan Tew, Chang, Kenneth, Ng, Wai Hoe, Tan, Ah Moy, Yamasaki, Kai, Tanaka, Chika, Okada, Keiko, Fujisaki, Hiroyuki, Osugi, Yuko, Hara, Junichi, Matsusaka, Yasuhiro, Sakamoto, Hiroaki, Inoue, Takeshi, Batchelder, Patti, DeMasters, B. K., Handler, Michael, Sumerauer, David, Vasovcak, Peter, Puchmajerova, Alena, Zapotocky, Michal, Vicha, Ales, Kyncl, Martin, Zamecnik, Josef, Sedlacek, Zdenek, Kodet, Roman, Geludkova, Olga, Kumirova, Ella, Korshunov, Andry, Kushel, Yuri, Melikyan, Armen, Shishkina, Ludmila, Ryzhova, Marina, Ozerova, Valentina, Gorbatyh, Svetlana, Popov, Vladimir, Pavlova, Evgeniya, Scherbenko, Oleg, Borodina, Irina, Donson, Andrew, Dunham, Christopher, Algar, Elizabeth, Popovski, Dean, Muscat, Andrea, Ashley, David, Modena, Piergiorgio, Sardi, Iacopo, Brenca, Monica, Giunti, Laura, Maestro, Roberta, Buccoliero, Anna Maria, Pollo, Bianca, Genitori, Lorenzo, Giangaspero, Felice, Massimino, Maura, Amani, Vladimir, Griesinger, Andrea, Bemis, Lynne, Schittone, Stephanie, Puccetti, Diane, Wargowski, David, Messiaen, Ludwine, Patel, Neha, Salamat, Shahriar, Rusinak, David, Iskandar, Bermans, Lun, Xueqing, Jayanthan, Aarthi, Forsyth, Peter, Narendran, Aru

مصطلحات موضوعية: Abstracts

وصف الملف: text/html

العلاقة: http://neuro-oncology.oxfordjournals.org/cgi/content/short/14/suppl_1/i1Test; http://dx.doi.org/10.1093/neuonc/nos091Test

الإتاحة: https://doi.org/10.1093/neuonc/nos091Test
http://neuro-oncology.oxfordjournals.org/cgi/content/short/14/suppl_1/i1Test

المؤلفون: Brin Hermans, Lauren, Shields, Bridget E., Garland, Catharine B., Aagaard-Kienitz, Beverly, Wargowski, David, Kovarik, Carrie, Arkin, Lisa M.

المصدر: Telemedicine and e-Health ; volume 25, issue 5, page 423-424 ; ISSN 1530-5627 1556-3669

مصطلحات موضوعية: Health Information Management, Health Informatics, General Medicine

الإتاحة: https://doi.org/10.1089/tmj.2018.0003Test

المؤلفون: Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, Tifft, Cynthia J., Meck, Jeanne, Blancato, Jan K., Rosenbaum, Kenneth, Pauli, Richard M., Weber, James, Biesecker, Leslie G.

المصدر: The American Journal of Human Genetics ; volume 66, issue 2, page 419-427 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/302743Test
https://api.elsevier.com/content/article/PII:S0002929707634168?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707634168?httpAccept=text/plainTest

المؤلفون: Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang

المصدر: The American Journal of Human Genetics ; volume 64, issue 2, page 435-445 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1086/302238Test
https://api.elsevier.com/content/article/PII:S0002929707617492?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707617492?httpAccept=text/plainTest