-
1دورية أكاديمية
المؤلفون: Novy, Camilla, Busk, Øyvind L, Tysnes, Ole-Bjørn, Landa, Sigve S, Aanjesen, Tori N, Alstadhaug, Karl B, Bjerknes, Tale L, Bjørnå, Ingrid K, Bråthen, Geir, Dahl, Elin, Demic, Natasha, Fahlström, Maria, Flemmen, Heidi Ø, Hallerstig, Erika, HogenEsch, Ineke, Kampman, Margitta T, Kleveland, Grethe, Kvernmo, Helene B, Ljøstad, Unn, Maniaol, Angelina, Morsund, Aase Hagen, Nakken, Ola, Olsen, Cathrine G, Schlüter, Katrin, Utvik, May-Sissel, Yaseen, Ryaz, Holla, Øystein L, Holmøy, Trygve, Høyer, Helle
المساهمون: Telemark Hospital Trust, South-Eastern Norway Regional Health Authority
المصدر: Brain Communications ; volume 6, issue 2 ; ISSN 2632-1297
الإتاحة: https://doi.org/10.1093/braincomms/fcae087Test
https://academic.oup.com/braincomms/article-pdf/6/2/fcae087/57292755/fcae087.pdfTest -
2دورية أكاديمية
المؤلفون: Mannucci, Ilaria, Dang, Nghi DP, Huber, Hannes, Murry, Jaclyn B, Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J, Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A, Braathen, Geir Julius, Busk, Øyvind L, Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F, Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A, Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W, Brenman, Leslie Manace, Martinez-Agosto, Julian A, Might, Matthew, Miller, David T, Minks, Kelly Q, Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F, Parant, John M, Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F, Schuurs-Hoeijmakers, Janneke, Shieh, Perry B, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander PA, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor
المصدر: Genome Medicine. 13(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Clinical Research, Mental Health, Prevention, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, Animals, Biomarkers, Gene Expression, Gene Knockdown Techniques, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, HEK293 Cells, Humans, Immunohistochemistry, Mutation, Neurodevelopmental Disorders, Phenotype, RNA Helicases, Zebrafish, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3qt8w4z5Test
-
3دورية أكاديمية
المؤلفون: Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie
المصدر: American journal of human genetics. 104(3)
مصطلحات موضوعية: CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4cf0w8wvTest
-
4دورية أكاديمية
المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.
المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdfTest
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G, Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J, Kuechler, Alma, Busk, Øyvind L, Islam, Lily, Siedlik, Jacob A, Henderson, Lindsay B, Juusola, Jane, Person, Richard, Schnur, Rhonda E, Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J, Stessman, Holly A F
المصدر: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; . (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/179893Test/
-
6دورية أكاديمية
المؤلفون: Høyer, Helle, Busk, Øyvind L., Esbensen, Q. Ying., Røsby, Oddveig, Hilmarsen, Hilde T., Russell, Michael B., Nyman, Tuula A., Braathen, Geir J., Nilsen, Hilde L.
المساهمون: South Eastern Norway Regional Health Authority, Research Council of Norway
المصدر: BMC Neurology ; volume 22, issue 1 ; ISSN 1471-2377
مصطلحات موضوعية: Neurology (clinical), General Medicine
-
7دورية أكاديمية
المؤلفون: Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Fuerte, Edith P. Almanza, Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Oyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Kury, Sebastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Moller, Rikke S., Scheffer, Ingrid E.
المصدر: Stamberger , H , Hammer , T B , Gardella , E , Vlaskamp , D R M , Bertelsen , B , Mandelstam , S , de Lange , I , Zhang , J , Myers , C T , Fenger , C , Afawi , Z , Fuerte , E P A , Andrade , D M , Balcik , Y , Ben Zeev , B , Bennett , M F , Berkovic , S F , Isidor , B , Bouman , A , Brilstra , E , Busk , O L , Cairns , A ....
مصطلحات موضوعية: NEXMIF, KIAA2022, developmental and epileptic encephalopathy, epilepsy, intellectual disability, ILAE COMMISSION, POSITION PAPER, MUTATIONS, CLASSIFICATION, INACTIVATION, MOSAICISM, MYOCLONIA
الإتاحة: https://doi.org/10.1038/s41436-020-00988-9Test
https://cris.maastrichtuniversity.nl/en/publications/89bb2576-a2f3-46e4-a06f-0feecf08fcf9Test -
8دورية أكاديمية
المؤلفون: Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R.M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Fuerte, Edith P. Almanza, Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Oyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P.C., Koolen, David A., Korff, Christian, Kury, Sebastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T.R.M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Moller, Rikke S., Scheffer, Ingrid E.
المصدر: 1098-3600 ; Genetics in medicine
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000585006300002
-
9دورية أكاديمية
المؤلفون: Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja
المساهمون: Universität zu Lübeck
المصدر: The American Journal of Human Genetics ; volume 105, issue 1, page 213-220 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.05.005Test
https://api.elsevier.com/content/article/PII:S0002929719301910?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719301910?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Gibbs, Charlotte, Thalamus, Jacob, Tveten, Kristian, Busk, Øyvind L., Hysing, Jan, Haugaa, Kristina H., Holla, Øystein L.
المصدر: Journal of the American Heart Association ; volume 7, issue 16 ; ISSN 2047-9980
