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American Journal of Medical Genetics. Part A|July 4, 2015
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallotKarin Weiss, Carolyn Applegate, Tao Wang, et al.American Journal of Medical Genetics. Part A|July 4, 2015
Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6Maxim Balasov, Katarina Akhmetova, Igor ChesnokovAmerican Journal of Medical Genetics. Part A|June 23, 2015
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalisRachael T Overcash, Christopher K Gibu, Marilyn C Jones, et al.American Journal of Medical Genetics. Part A|June 23, 2015
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceJohn C K Barber, Jill A Rosenfeld, John M Graham, et al.American Journal of Medical Genetics. Part A|June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parentsN Houcinat, B Llanas, S Moutton, et al.American Journal of Medical Genetics. Part A|June 4, 2020
Characteristic dental pattern with hypodontia and short roots in Fraser syndromeFelix Kunz, Hülya Kayserili, Alina Midro, et al.American Journal of Medical Genetics. Part A|August 26, 2021
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestryEmily Mira Warshauer, Adam Brown, Ignacia Fuentes, et al.American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.American Journal of Medical Genetics. Part A|May 19, 2021
COXPD9 in an individual from Puerto Rico and literature reviewHind Alsharhan, Colleen Muraresku, Rebecca D GanetzkyAmerican Journal of Medical Genetics. Part A|August 20, 2021
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndromeBahareh Rabbani, Mohammadrafi Khorgami, Mohammad Dalili, et al.Pageof 928