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Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence|January 30, 2002
Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affectT Hopyan, M Dennis, R Weksberg, et al.American Journal of Medical Genetics|May 30, 2001
Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disordersP D Arnold, J Siegel-Bartelt, C Cytrynbaum, et al.Prenatal Diagnosis|March 4, 1998
Familial ileal perforation: prenatal diagnosis and postnatal follow-upD Chitayat, S Grisaru-Granovsky, G Ryan, et al.American Journal of Medical Genetics. Part A|June 9, 2005
The adult phenotype in Costello syndromeSusan M White, J M Graham, B Kerr, et al.Journal of Intellectual Disability Research : JIDR|July 14, 2023
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndromeT Cosman, A Finless, A L Rideout, et al.Clinical Epigenetics|July 18, 2019
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variantsM T Siu, D T Butcher, A L Turinsky, et al.European Journal of Human Genetics : EJHG|February 15, 2001
Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.Nature Communications|December 23, 2015
NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.Pageof 1