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1
von Cif, L ; Demailly, D ; Lin, JP ; et al.
Brain. 2020 Dec 5;143(11):3242-3261
Schlagworte: Quantitative Biology - Neurons and Cognition
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3
von Hilary C. Martin ; Eugene J. Gardner ; Kaitlin E. Samocha ; et al.
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Schlagworte: Science
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Schlagworte: histone H4; intellectual disability; microcephaly; neurodevelopmental disorder; nucleosome; zebrafish; Genetics(clinical); Genetics; Journal Article
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von Tessadori, Federico ; Duran, Karen ; Knapp, Karen ; et al.
American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Schlagworte: Animals; Chromatin; DNA; Histones; Humans; Syndrome; Zebrafish; histone H4; intellectual disability; microcephaly; neurodevelopmental disorder; nucleosome
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von Martin, Hilary C ; Gardner, Eugene J ; Samocha, Kaitlin E ; et al.
Schlagworte: Chromosomes; Human; Developmental Disabilities; Female; Genes; Recessive; X-Linked; Genetic Diseases; Genetic Variation; Humans; Inheritance Patterns; Male; Multifactorial Inheritance; Mutation; Phenotype; Sex Characteristics
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von Kaplanis, J ; Samocha, KE ; Wiel, L ; et al.
Nature , 586 (7831) pp. 757-762. (2020)
Schlagworte: Cohort Studies; DNA Copy Number Variations; DNA Mutational Analysis; Data Analysis; Databases; Genetic; Datasets as Topic; Delivery of Health Care; Developmental Disabilities; Europe; Female; Genetic Diseases; Inborn; Germ-Line Mutation; Haploinsufficiency; Humans; Male; Mutation; Missense; Penetrance; Perinatal Death; Sample Size
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von Cif, L ; Demailly, D ; Lin, J-P ; et al.
Brain , 143 (11) pp. 3242-3261. (2020)
Schlagworte: KMT2B; deep brain stimulation (DBS); dystonia; genetics; neurodevelopment
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von Salpietro, V ; Malintan, NT ; Llano-Rivas, I ; et al.
American Journal of Human Genetics , 104 (4) pp. 721-730. (2019)
Schlagworte: SNARE; VAMP2; autism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; synaptobrevin; synaptopathy; vesicle fusion
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Schlagworte: behavioral disorder; CDK8; congenital heart disease; de novo mutation; dominant negative; hypotonia; intellectual disability; kinase; Mediator complex; Mediator kinase modulopathy; Genetics(clinical); Genetics; Research Support; Non-U.S. Gov't; Journal Article
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von Calpena, E ; Hervieu, A ; Kaserer, T ; et al.
Schlagworte: Deciphering Developmental Disorders Study; Brain; Humans; Heart Defects; Congenital; Syndrome; Cyclin-Dependent Kinases; Developmental Disabilities; Phosphorylation; Heterozygote; Phenotype; Mutation; Missense; Child; Preschool; Infant; Female; Male; Cyclin C; Cyclin-Dependent Kinase 8; Mediator Complex; Intellectual Disability; Exome
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von Kaplanis, Joanna ; Akawi, Nadia ; Gallone, Giuseppe ; et al.
Schlagworte: RESEARCH
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von Lord, Jenny ; Gallone, Giuseppe ; Short, Patrick J. ; et al.
Schlagworte: RESEARCH
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von Katrina Tatton-Brown ; Anna Zachariou ; Chey Loveday ; et al.
Wellcome Open Research, Vol 3 (2018)
Schlagworte: Medicine; Science
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von Reijnders,Margot R.F. ; Miller,Kerry A. ; Alvi,Mohsan ; et al.
Schlagworte: facial averaging; haploinsufficiency; intellectual disability; kinase; Tousled-like; Genetics; Genetics(clinical)
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von Patricia Blanchet ; Martina Bebin ; Shaam Bruet ; et al.
PLoS Genetics, Vol 13, Iss 8, p e1006957 (2017)
Schlagworte: Genetics; QH426-470
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von Guella, Ilaria ; McKenzie, Marna B ; Evans, Daniel M ; et al.
Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Buerki, Sarah E; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American Journal of Human Genetics, 101(2):300-310.
Schlagworte: Medical Clinic; 610 Medicine & health
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von Gardner, Eugene ; Prigmore, Elena ; Gallone, Giuseppe ; et al.
bioRxiv
Schlagworte: on behalf of the Deciphering Developmental Disorders study
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von Martin, C-A ; Murray, JE ; Carroll, P ; et al.
Schlagworte: condensin; microcephaly; neurodevelopment; decatenation
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