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American Journal of Medical Genetics. Part A|November 14, 2017
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelinesGeorge T Capone, Brian Chicoine, Peter Bulova, et al.American Journal of Medical Genetics. Part A|November 14, 2017
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndromeMathias Schwartz, Damien Sternberg, Sandra Whalen, et al.American Journal of Medical Genetics. Part A|January 18, 2018
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalusGaia Ruggeri, Andrew E Timms, Chi Cheng, et al.American Journal of Medical Genetics. Part A|January 18, 2018
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndromeBlaine Crowley, Melanie Ruffner, Donna M McDonald McGinn, et al.American Journal of Medical Genetics. Part A|January 18, 2018
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutationNarumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, et al.American Journal of Medical Genetics. Part A|December 28, 2018
Schuurs-Hoeijmakers syndrome in two patients from JapanYusuke Hoshino, Takashi Enokizono, Kazuo Imagawa, et al.American Journal of Medical Genetics. Part A|December 28, 2018
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlationsTova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, et al.American Journal of Medical Genetics. Part A|January 11, 2019
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complexGlenda M Beaman, Adrian S Woolf, Raimondo M Cervellione, et al.American Journal of Medical Genetics. Part A|December 20, 2018
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variantSilvia Morlino, Viola Alesi, Federica Calì, et al.American Journal of Medical Genetics. Part A|December 21, 2018
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF geneAlan Caro-Contreras, Miguel A Alcántara-Ortigoza, Juan F Ahumada-Pérez, et al.Pageof 929