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BMC Medical Genetics|January 4, 2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjectsEmilia Cirillo, Giuliana Giardino, Vera Gallo, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
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