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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.Human Mutation|May 9, 2020
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditionsMarie Balzotti, Linyan Meng, Dale Muzzey, et al.Human Mutation|May 9, 2020
TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese populationWen-Bin Zou, Yuan-Chen Wang, Xin-Lu Ren, et al.Human Mutation|January 1, 1997
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu, S Fukuda, A Cooper, et al.Human Mutation|January 1, 1997
Molecular basis of heat labile hexosaminidase B among Jews and ArabsG Narkis, A Adam, L Jaber, et al.Pageof 578