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

URL الوصول: https://escholarship.org/uc/item/3qt8w4z5
https://escholarship.org/content/qt3qt8w4z5/qt3qt8w4z5.pdf

المؤلفون: Novy, Camilla, Tysnes, Ole-Bjørn, Busk, Øyvind L., Jaioun, Keson, Holmøy, Trygve, Holla, Øystein L., Høyer, Helle

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; page 1-7 ; ISSN 2167-8421 2167-9223

الاتاحة: https://doi.org/10.1080/21678421.2024.2447922
https://www.tandfonline.com/doi/pdf/10.1080/21678421.2024.2447922

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

الاتاحة: http://dx.doi.org/10.1093/braincomms/fcae087
https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcae087/7628409
https://academic.oup.com/braincomms/article-pdf/6/2/fcae087/57292755/fcae087.pdf

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

URL الوصول: https://escholarship.org/uc/item/4cf0w8wv

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

الاتاحة: https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4
https://doi.org/10.1126/sciadv.ade1463
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdf
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxK

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

Relation: https://boris.unibe.ch/179893/

الاتاحة: https://boris.unibe.ch/179893/1/sciadv.ade1463.pdf
https://boris.unibe.ch/179893/

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

الاتاحة: http://dx.doi.org/10.1186/s12883-022-02828-6
https://link.springer.com/content/pdf/10.1186/s12883-022-02828-6.pdf
https://link.springer.com/article/10.1186/s12883-022-02828-6/fulltext.html

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

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/89bb2576-a2f3-46e4-a06f-0feecf08fcf9
https://doi.org/10.1038/s41436-020-00988-9

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

Relation: info:eu-repo/semantics/altIdentifier/isi/000585006300002

الاتاحة: https://hdl.handle.net/10067/1735350151162165141
https://repository.uantwerpen.be/docstore/d:irua:4230

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

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.05.005
https://api.elsevier.com/content/article/PII:S0002929719301910?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719301910?httpAccept=text/plain

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

الاتاحة: http://dx.doi.org/10.1161/jaha.118.009706
https://www.ahajournals.org/doi/full/10.1161/JAHA.118.009706

المؤلفون: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A

المصدر: American Journal of Human Genetics, vol 100, iss 2

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Epilepsy, Neurodegenerative, Brain Disorders, Clinical Research, Mental Health, Rare Diseases, Human Genome, Neurosciences, Pediatric, 2.1 Biological and endogenous factors, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male

جغرافية الموضوع: 343 - 351

وصف الملف: application/pdf

Relation: qt7290n3b3; https://escholarship.org/uc/item/7290n3b3; https://escholarship.org/content/qt7290n3b3/qt7290n3b3.pdf

الاتاحة: https://escholarship.org/uc/item/7290n3b3
https://escholarship.org/content/qt7290n3b3/qt7290n3b3.pdf
https://doi.org/10.1016/j.ajhg.2016.12.013

المؤلفون: Nordang, Gry B.N., Busk, Øyvind L., Tveten, Kristian, Hanevik, Hans Ivar, Fell, Anne Kristin M., Hjelmesæth, Jøran, Holla, Øystein L., Hertel, Jens K.

المساهمون: Telemark Hospital, Vestfold Hospital Trust

المصدر: Molecular Genetics and Metabolism ; volume 121, issue 1, page 51-56 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.03.007
https://api.elsevier.com/content/article/PII:S1096719216308319?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719216308319?httpAccept=text/plain

المؤلفون: Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E., Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G., Thorstensen, Wenche M.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf; Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B. https://orca.cardiff.ac.uk/view/cardiffauthors/A4608133.html, Sansbury, Francis H. https://orca.cardiff.ac.uk/view/cardiffauthors/A2408671B.html, Baptista, Júlia, Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.html orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924, Lim, Derek, Jolles, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A076912M.html, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G. and Thorstensen, Wenche M. 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188 (1) , pp. 272-282. 10.1002/ajmg.a.62492 https://doi.org/10.1002/ajmg.a.62492 file https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/144109/
https://doi.org/10.1002/ajmg.a.62492
https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf

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.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea57215e9f71c966982078fd5593cbc

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.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9e1fe8da407245fa9962478b25754e

المؤلفون: Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.

المصدر: BioMed Research International ; volume 2015, page 1-2 ; ISSN 2314-6133 2314-6141

الاتاحة: http://dx.doi.org/10.1155/2015/314651
http://downloads.hindawi.com/journals/bmri/2015/314651.pdf
http://downloads.hindawi.com/journals/bmri/2015/314651.xml

المؤلفون: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, 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, Guyader, Gwenael Le, 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, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::235a1f8591f9ccfba121e151fc6ad70b

المؤلفون: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, 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, Guyader, Gwenael Le, 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, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f2d188b2d1c7ebca1c684fc2cfa73b

المؤلفون: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, 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, Guyader, Gwenael Le, 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, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, Lessel, Davor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b555563b16870c6959d2d4ddc46bb1