المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/e3306fa1990545148f66b913263d56ba

المؤلفون: Kelley Dalby, Ted Snyder, Lillian Matthews, Elise Brimble, Geoffrey Beek, Alexa Berk, Michael Oldham, Marcio Souza, Steven Petrou

المصدر: Wednesday, April 26.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c15459473905da128a3a99e0f40e975
https://doi.org/10.1212/wnl.0000000000203044

المؤلفون: Lisa Ohden, Jenny Morton, M. J. Hajianpour, Geoffrey Beek, Rebecca C. Spillmann, Donald Basel, Christine Shieh, Joel P. Mackay, Richard S. Finkel, Stanley F. Nelson, Andrew Choi, Shane McKee, Thomas D. Challman, Karen E. Wain, Loren D M Pena, Rosemarie Smith, David R. FitzPatrick, Natasha Jones, John M. Graham, Brigitte Vanle, Samantha A. Vergano, Kay Metcalfe, Julian A. Martinez, Ana Berta Sousa, Luis O Rohena, Usha Kini, Alden Y. Huang, Andrew Dauber, Maria Gabriela Otero, Karen W. Gripp, Mauricio R. Delgado, Roman Yusupov, Judith D. Ranells, Miranda Splitt, David Chitayat, Mary-Louise Freckmann, Juan I. Young, Emilie D. Douine, Eric D. Marsh, Helen Cox, Sunita Venkateswaran, Jane A. Hurst, Ingrid P. Taff, Margaret G. Au, Katheryn Grand, Laura Davis-Keppen, Hilary J. Vernon, Andrea H. Seeley, Tyler Mark Pierson, Hane Lee, Ana P. G. Silva, Katherine Lachlan, Sakkubai Naidu, Sonal Mahida, James J. Dowling

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Genet Med

مصطلحات موضوعية: 0301 basic medicine, education, 030105 genetics & heredity, Biology, NuRD complex, GATA Transcription Factors, Article, Frameshift mutation, Chromatin remodeling, 03 medical and health sciences, GATAD2B, Neurodevelopmental disorder, Pregnancy, Apraxia of speech, Intellectual Disability, medicine, Missense mutation, Humans, Macrocephaly, Child, Genetics (clinical), Genetics, medicine.disease, Mi-2/NuRD complex, Human genetics, Hypotonia, Megalencephaly, Nucleosomes, Repressor Proteins, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Female, medicine.symptom

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ff8e5070bc30442280c26cec65f877

المؤلفون: Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y. Huang, Ana P.G. Silva, Hane Lee, Emilie D. Douine, Maria G. Otero, Andrew Choi, Katheryn Grand, Ingrid P. Taff, Mauricio R. Delgado, M.J. Hajianpour, Andrea Seeley, Luis Rohena, Hilary Vernon, Karen W. Gripp, Samantha A. Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E. Wain, Thomas D. Challman, Geoffrey Beek, Donald Basel, Judith Ranells, Rosemarie Smith, Roman Yusupov, Mary-Louise Freckmann, Lisa Ohden, Laura Davis-Keppen, David Chitayat, James J. Dowling, Richard Finkel, Andrew Dauber, Rebecca Spillmann, Loren D.M. Pena, Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane A. McKee, Jane Hurst, David R. Fitzpatrick, Jenny E.V. Morton, Helen Cox, Sunita Venkateswaran, Juan I. Young, Eric D. Marsh, Stanley F. Nelson, Julian A. Martinez, John M. Graham, Usha Kini, Joel P. Mackay, Tyler Mark Pierson

المصدر: Genetics in Medicine. 22:822

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18901331b7519f74f99c6cdd53536da4
https://doi.org/10.1038/s41436-020-0760-2