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American Journal of Medical Genetics. Part A|January 4, 2026
Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic SeverityAzmatullah Khan, Naseebullah Kakar, Ainullah Kakar, et al.American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.American Journal of Medical Genetics. Part A|October 27, 2022
X-Linked intellectual disability update 2022Charles E Schwartz, Raymond J Louie, Annick Toutain, et al.American Journal of Medical Genetics. Part A|November 5, 2022
18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis IDorina Pjetraj, Lucia Santoro, Claudia Sgattoni, et al.American Journal of Medical Genetics. Part A|November 4, 2022
Evolution in the clinic: Maladaptive units and "minor anomalies"John C Carey, John M OpitzAmerican Journal of Medical Genetics. Part A|November 28, 2014
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligenceOscar F Chacon-Camacho, Vanessa Villegas-Ruiz, Beatriz Buentello-Volante, et al.American Journal of Medical Genetics. Part A|November 28, 2014
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomasJonathan Saari, Mark A Lovell, Hung-Chun Yu, et al.American Journal of Medical Genetics. Part A|November 28, 2014
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeAnna Urbanowicz, Jenny Downs, Sonya Girdler, et al.American Journal of Medical Genetics. Part A|November 28, 2014
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphismsOrazio Palumbo, Pietro Palumbo, Maurizio Delvecchio, et al.American Journal of Medical Genetics. Part A|November 27, 2014
Cholesterol levels in fragile X syndromeElizabeth Berry-Kravis, Rebecca Levin, Haroon Shah, et al.Pageof 925