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American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.American Journal of Medical Genetics. Part A|February 11, 2022
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descentElizabeth Langley, Laura S Farach, Mary K Koenig, et al.American Journal of Medical Genetics. Part A|October 6, 2021
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologiesDavor Lessel, Katrin Rading, Susan E Campbell, et al.American Journal of Medical Genetics. Part A|January 25, 2022
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variantEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.American Journal of Medical Genetics. Part A|January 27, 2022
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1Saskia Koene, Jeroen Knijnenburg, Mariette J V Hoffer, et al.American Journal of Medical Genetics. Part A|January 27, 2022
A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndromeAslıhan Kiraz, Filiz Tubaş, Turgut SeberAmerican Journal of Medical Genetics. Part A|January 28, 2022
Whole exome sequencing studies in epilepsy: A deep analysis of the published literatureArif Shukralla, Robert Carton, Katherine A Benson, et al.American Journal of Medical Genetics. Part A|November 1, 2021
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18Jeffrey W Kepple, Eric S PeeplesAmerican Journal of Medical Genetics. Part A|November 3, 2021
Pulmonary vascular resistance and compliance in individuals with trisomy 18Eriko Hatai, Jun Muneuchi, Yuichiro Sugitani, et al.American Journal of Medical Genetics. Part A|October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigreesKamal Khan, Sarmad Mehmood, Chunyu Liu, et al.Pageof 928