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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.Human Mutation|January 1, 1997
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.Human Mutation|January 1, 1997
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.Human Mutation|January 1, 1997
Method for in situ investigation of mitochondrial DNA deletionsS A Kovalenko, P J Harms, M Tanaka, et al.Human Mutation|August 24, 2021
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing lossJiguang Peng, Jiale Xiang, Xiangqian Jin, et al.Human Mutation|August 24, 2021
Actionable genomic variants in 6045 participants from the Qatar Genome ProgramAmal Elfatih, Borbala Mifsud, Najeeb Syed, et al.Human Mutation|December 18, 2004
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.Pageof 577