المؤلفون: Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100015- (2021)

مصطلحات موضوعية: Histone deacetylase 4, intellectual disability, gain-of-function, 14-3-3 binding, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247720300154Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/246a7dacb117428c8733e2f639e82ae3Test

المؤلفون: Jean Vacher, Michael Bruccoleri, Monica Pata

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 16, p 5600 (2020)

مصطلحات موضوعية: osteoclast, osteopetrosis, grey-lethal, Ostm1, bone resorption, trafficking, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/21/16/5600Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/a79bc0e1e81a494cb3104e3d52d6b652Test

المؤلفون: David A. Stevenson, Karen Stals, Andrea Hanson-Kahn, Sian Ellard, Michael Bruccoleri, Clare E. Beesley, Emma Wakeling, Xiang-Jiao Yang, Matthew Wakeling, Sarah H. Elsea, Philippe M. Campeau, Angela Barnicoat, Meriel McEntagart, Richard Caswell, Charles Shaw-Smith, Mary K. Kukolich

المصدر: Hgg Advances
HGG Advances, Vol 2, Iss 1, Pp 100015-(2021)

مصطلحات موضوعية: Genetics, gain-of-function, biology, Regulatory site, Histone deacetylase 4, QH426-470, Chromosome 2q37 Deletion Syndrome, HDAC4, Phenotype, Article, Chromatin, Histone, intellectual disability, 14-3-3 binding, biology.protein, Molecular Medicine, Missense mutation, Binding site, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b952f799a7eb45fbb729625561bb9b53Test
https://pubmed.ncbi.nlm.nih.gov/33537682Test

المؤلفون: Melita Irving, Natalia Gomez-Ospina, Glen R. Monroe, Katrina Haude, Paulien A Terhal, Philippe M. Campeau, Ariel F. Martinez, Joke Beuten, Pengfei Liu, Chin-To Fong, Maximilian Muenke, Michael Bruccoleri, Lina Basel-Vanagaite, Gijs van Haaften, Keren Machol, Lior Cohen, Yaping Yang, Magdalena Walkiewicz, Xiang-Jiao Yang, Karin Weiss, Jill A. Rosenfeld, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen L.I. van Gassen, Gregory M. Enns

المصدر: American Journal of Human Genetics, 99(4), 934. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, DNA repair, Developmental Disabilities, Micrognathism, Mutation, Missense, Histone Deacetylase 1, Biology, Autoantigens, Chromatin remodeling, Chromodomain, 03 medical and health sciences, Mice, Adenosine Triphosphate, Report, Intellectual Disability, Genetics, Journal Article, Animals, Humans, Abnormalities, Multiple, Exome, Epigenetics, Child, Hearing Loss, Genetics (clinical), Cell Nucleus, DNA Helicases, Nuclear Proteins, Syndrome, Chromatin Assembly and Disassembly, Megalencephaly, Chromatin, 030104 developmental biology, Child, Preschool, Face, Histone deacetylase complex, SMARCA4, Female, CHD4, Hand Deformities, Congenital, Neck, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Transcription Factors

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e7db9ea5478c639020f613c98d9ebfTest
https://doi.org/10.1016/j.ajhg.2016.08.001Test