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Human Mutation|January 22, 2008
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formationSheron Perera, Bharati BapatHuman Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.Human Mutation|February 27, 2008
6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4Daniel Janke, Sherif Mehralivand, Dennis Strand, et al.Human Mutation|April 3, 2008
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)Elizabeth C Chao, Jonathan L Velasquez, Mavee S L Witherspoon, et al.Human Mutation|April 15, 2008
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese familyFeng Gu, Weixiao Luo, Xin Li, et al.Human Mutation|April 15, 2008
SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian populationKarolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, et al.Human Mutation|March 10, 2017
Rare deleterious variants in GRHL3 are associated with human spina bifidaPhilippe Lemay, Patrizia De Marco, Alexandre Emond, et al.Human Mutation|March 29, 2019
Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signalingWei Li, Lingfang Tan, Xin Li, et al.Human Mutation|March 19, 2021
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRRPrzemyslaw Szafranski, Tomasz Gambin, Justyna A Karolak, et al.Human Mutation|March 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Tim Van Damme, Delfien Syx, et al.Pageof 578