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American Journal of Medical Genetics. Part A|July 14, 2016
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literatureMaria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, et al.European Journal of Medical Genetics|October 16, 2012
Heart defects and other features of the 22q11 distal deletion syndromeChristina R Fagerberg, Jesper Graakjaer, Ulrike D Heinl, et al.American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.American Journal of Human Genetics|December 3, 2014
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genesClaudia M B Carvalho, Shivakumar Vasanth, Marwan Shinawi, et al.American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)Sally Nijim, Mimi Kim, Melissa Denish, et al.Pageof 3