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Molecular Genetics & Genomic Medicine|December 10, 2019
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and IndiaSophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, et al.
Molecular Genetics & Genomic Medicine|December 14, 2019
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosisLiangshan Li, Wenmiao Liu, Yinglei Xu, et al.
Molecular Genetics & Genomic Medicine|February 19, 2020
Analyzing false-negative results detected in low-risk non-invasive prenatal screening casesYing Lin, Dong Liang, Yan Wang, et al.
Molecular Genetics & Genomic Medicine|February 19, 2020
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysisSheri A Poskanzer, Jenny Thies, Christopher J Collins, et al.
Molecular Genetics & Genomic Medicine|February 20, 2020
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome casesMarilia M Montenegro, Caio R Quaio, Patricia Palmeira, et al.
Molecular Genetics & Genomic Medicine|February 26, 2020
18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotypeHanna Kahila, Heidi Marjonen, Pauliina Auvinen, et al.
Molecular Genetics & Genomic Medicine|February 15, 2020
Bilateral aniridia and congenital ureteral valve: Role of genetic testingLisa B E Shields, Dennis S Peppas, Eran Rosenberg
Molecular Genetics & Genomic Medicine|February 15, 2020
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysisDerek Spieler, Antonio Velayos-Baeza, Alžbeta Mühlbäck, et al.
Molecular Genetics & Genomic Medicine|February 6, 2020
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypesKleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, et al.
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