Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Thabo M. Yates"'
Autor:
Bertrand Isidor, Ruth Armstrong, Thabo M. Yates, Susan M. White, Ruth Richardson, Solveig Heide, Katherine B. Burke, Tjitske Kleefstra, Marie Vincent, Meena Balasubramanian, Maria Irene Valenzuela Palafoll, Sébastien Küry, Rolph Pfundt, Ruth Newbury-Ecob, Sahar Mansour, Wendy K. Chung, Caroline Nava, Sofia Douzgou, Erika Leenders, Annachiara De Sandre-Giovannoli, Saba Sharif, Andrew E. Fry, Helen Stewart, Nicola K. Ragge, Alexander J. M. Dingemans, Pradeep C. Vasudevan, Alison Foster, Sahar Elouej, Shadi Albaba, François-Guillaume Debray, Boris Keren, Serwet Demirdas, Francis H. Sansbury, Thomas Scheffner, Arie van Haeringen, Alice S. Brooks, Meyke Schouten, Helen Cox, Kate Wilson
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE
Trastornos del espectro autista; Prueba genética Trastorns de l'espectre autista; Prova genètica Autism spectrum disorders; Genetic testing Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211d719da101010371b73dc1427c5fd2
https://hal.sorbonne-universite.fr/hal-03113281
https://hal.sorbonne-universite.fr/hal-03113281
Autor:
Tuula Rinne, Karen Low, Vijaya Ramachandran, Johanna C. Herkert, Michael Parker, Meena Balasubramanian, Helen Cox, Andrew E. Fry, Erica H. Gerkes, Deborah A Sival, Meriel McEntagart, Isabelle Marey, Mary O'Driscoll, Bert Callewaert, Perrine Charles, Fleur Vansenne, Suzanne Drury, Angela Barnicoat, Boris Keren, Wen-Hann Tan, Thabo M. Yates, Morgan Drucker
Publikováno v:
Human Mutation, 41, 1042-1050
Human Mutation, 41(5), 1042-1050. Wiley
Human Mutation, 41, 5, pp. 1042-1050
Human Mutation, 41(5), 1042-1050. Wiley
Human Mutation, 41, 5, pp. 1042-1050
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioural abnormalities and seizures. Only 11 affected individuals have been reported to‐date, and the phenotype associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4093b9f4bee15fa14a54d04907b235f
https://eprints.whiterose.ac.uk/158039/3/Yates_et_al-2020-Human_Mutation.pdf
https://eprints.whiterose.ac.uk/158039/3/Yates_et_al-2020-Human_Mutation.pdf