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Clinical Genetics|March 9, 2026
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial DysplasiaDorothea Stojanovic, Dorota Garczarczyk-Asim, Julia Vodopiutz, et al.Clinical Genetics|February 18, 2026
Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional MorphometricsKatherine Weisensee, Sara M Sarasua, Lior Rennert, et al.Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.Clinical Genetics|March 18, 2026
Optic Atrophy Associated With a Mitochondrial G8363A Mutation in a FamilyLeyu Lyu, Xiaolei SunClinical Genetics|November 22, 2008
Molecular and clinical consequences of novel mutations in the arylsulfatase A geneA Ługowska, P Wlodarski, R Płoski, et al.Clinical Genetics|November 4, 2004
Autism in Angelman syndrome: implications for autism researchS U Peters, A L Beaudet, N Madduri, et al.Clinical Genetics|March 30, 2023
Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health servicesJoshua J Nolan, Elizabeth OrmondroydClinical Genetics|April 3, 1999
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndromeP Booms, J Cisler, K R Mathews, et al.Clinical Genetics|May 15, 2009
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndromeN Hanna, B Parfait, I M Talaat, et al.Clinical Genetics|December 25, 2004
Research in human genetics: the tension between doing no harm and personal autonomyM K PeliasPageof 719