Biblio
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Filtres: Auteur is Undiagnosed Dis Network [Clear All Filters]
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2019. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. AMERICAN JOURNAL OF HUMAN GENETICS. 104:164-178.
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2020. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. BIOLOGICAL PSYCHIATRY. 87:100-112.
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2018. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 5:1277-1285.