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Human Mutation|June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year periodNicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.Human Mutation|May 11, 2021
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish typeSean Mullany, Emmanuelle Souzeau, Sonja Klebe, et al.Human Mutation|June 25, 2020
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markersArwin Ralf, Delano Lubach, Nefeli Kousouri, et al.Human Mutation|February 5, 1998
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sampleE J van Rensburg, S Engelbrecht, W F van Heerden, et al.Human Mutation|February 5, 1998
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in IsraelS Gilad, R Khosravi, R Harnik, et al.Human Mutation|May 23, 2020
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variantsJiale Xiang, Jiguang Peng, Samantha Baxter, et al.Human Mutation|May 9, 2015
The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic IdentityJohan T den DunnenHuman Mutation|May 19, 2015
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype CorrelationsJonathan H Chung, Jinlu Cai, Barrie G Suskin, et al.Human Mutation|May 28, 2015
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinPatricia Yuste-Checa, Alejandra Gámez, Sandra Brasil, et al.Human Mutation|April 26, 2020
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defectsJianhong Ye, Youli Tong, Jiashun Lv, et al.Pageof 577