Showing results (251-260 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|November 7, 2015
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)Nivedita U Jerath, Tiffany Grider, Michael E ShyCase Reports in Genetics|June 14, 2013
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypesFrancesca Malvestiti, Francesco Benedicenti, Simona De Toffol, et al.Case Reports in Genetics|January 23, 2016
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>THolli M Drendel, Jason E Pike, Katherine Schumacher, et al.Case Reports in Genetics|November 18, 2025
Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer ScreeningKara Rogen, Lisa Boardman, Megan BirdCase Reports in Genetics|October 16, 2025
Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional CollapseKristen A Cofer, Liam Friel, Mingqiang Ren, et al.Case Reports in Genetics|January 25, 2020
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further CaseA H Sabir, G Ryan, Z Mohammed, et al.Case Reports in Genetics|January 25, 2020
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 SyndromeCristian Petter, Lilia Maria Azevedo Moreira, Mariluce RiegelCase Reports in Genetics|October 30, 2020
Acute Intermittent Porphyria in a Man with Dual Enzyme DeficienciesG N Cerbino, L Abou Assali, L S Varela, et al.Case Reports in Genetics|June 7, 2017
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaA M Ali, R M Mbwasi, G Kinabo, et al.Case Reports in Genetics|October 9, 2023
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome)Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, et al.Pageof 34