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1دورية أكاديمية
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
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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 -
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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 Medمصطلحات 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
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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)