المؤلفون: Iris Verbinnen, Sara S. Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A. King

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: PP2A-related neurodevelopmental disorders, de novo mutation, PPP2CA, epilepsy, autism (ASD), developmental delay, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1059938/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/2d623b682c10495e8eb5dbcf0c3502dc

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Ellen Macnamara, Marlène Rio, Nicole Revencu, Saleem Malik, Siska Van Belle, Maura R.Z. Ruzhnikov, Jolanda H. Schieving, Lisenka E.L.M. Vissers, Barak Tziperman, Hilde M.H. Braakman, Alma Kuechler, Susan Sell, Philip Harrer, Ernie M.H.F. Bongers, Marjolein Kriek, Dagmar Wieczorek, Bert B.A. de Vries, Christopher T. Gordon, Jeanne Amiel, Matias Wagner, Dorien Haesen, Roger L. Ladda, Koen L.I. van Gassen, Elise Brimble, Sandra Jansen, Sonja Henry, Carlo Marcelis, Paulien A Terhal, Nienke E. Verbeek, Ortal Barel, Sara Reynhout, Carlos Ferreira, Jessica Scott Schwoerer, Veerle Janssens, Heather M. McLaughlin, Sonja A. de Munnik, Cacha M.P.C.D. Peeters-Scholte

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: American Journal of Human Genetics, 104, 1, pp. 139-156
American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)
American Journal of Human Genetics, 104(1), 139. Cell Press
American Journal of Human Genetics, 104, 139-156
Am. J. Hum. Genet. 104, 139-156 (2019)
American Journal of Human Genetics, 104(1), 139-156

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, Medizin, Haploinsufficiency, 0302 clinical medicine, De Novo Mutation, Epilepsy, Intellectual Disability, Pp2a, Pp2a-related Neurodevelopmental Disorders, Ppp2ca, Syndrome, Intellectual disability, Gene duplication, Missense mutation, Genetics(clinical), Protein Phosphatase 2, Child, Genetics (clinical), Genetics, 0303 health sciences, 030302 biochemistry & molecular biology, syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, PP2A, intellectual disability, Child, Preschool, Female, medicine.symptom, Protein Binding, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adolescent, Protein subunit, Nonsense mutation, Biology, Article, PP2A-related neurodevelopmental disorders, Frameshift mutation, 03 medical and health sciences, medicine, Humans, Gene, De novo mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Correction, medicine.disease, Human genetics, PPP2CA, de novo mutation, Protein Subunits, HEK293 Cells, 030104 developmental biology, Mutation, epilepsy, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bebe5a429039fe84e3b036fb1114bb20
https://hdl.handle.net/2066/202645

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.