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630 results for your search :
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ZNF699-related syndrome: symptoms, mechanisms, and episignature: an extended cohort collection
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The genetic and clinical spectrum of the LINS1-related neurodevelopmental disorder
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Further description of the phenotypic spectrum of Diphthamide Deficiency Syndrome 2
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Further delineation of PPP2CA-related, HOUGE-JANSSENS SYNDROME 3
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VAMP2-related SNAREopathies: from mechanism to therapeutic approach
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Towards a better understanding of the clinical and molecularspectrum of familial Rubinstein-Taybi syndrome
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DSCAM monoallelic variants in Neurodevelopmental Disorders
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KAT6A Fetal Cohort – Arboleda-Tham Syndrome
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FEM1C-Related Disorders
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ERN-ITHACA webinar: TSC-associated neuropsychiatric disorders and the TANDem project