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American Journal of Medical Genetics. Part A|December 27, 2022
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorderAbdulrahman A Aldeeri, Aya Abu-El-HaijaAmerican Journal of Medical Genetics. Part A|December 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomyMonica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, et al.American Journal of Medical Genetics. Part A|January 24, 2023
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tractCaroline M Kolvenbach, Bixia Zheng, Lea M Merz, et al.American Journal of Medical Genetics. Part A|July 5, 2022
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type IKristen Murphey, Paul E George, Bojana Pencheva, et al.American Journal of Medical Genetics. Part A|July 5, 2022
Detecting pathogenic deep intronic variants in Gitelman syndromeRini Rossanti, Tomoko Horinouchi, Nana Sakakibara, et al.American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.American Journal of Medical Genetics. Part A|June 23, 2021
History of the methodology of disease gene identificationStylianos E AntonarakisAmerican Journal of Medical Genetics. Part A|June 25, 2021
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opusAda Hamosh, Joanna S Amberger, Carol Bocchini, et al.American Journal of Medical Genetics. Part A|June 29, 2021
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic reviewJessica A Cooley Coleman, Sara M Sarasua, Luigi Boccuto, et al.American Journal of Medical Genetics. Part A|June 30, 2021
Singleton-Merten syndrome: A rare cause of femoral head necrosisElio Assaf, Mohamad Bdeir, Elisabeth Mohs, et al.Pageof 928