Showing results (5251-5260 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|October 7, 2008
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney diseaseYing-Cai Tan, Jon D Blumenfeld, Raluca Anghel, et al.Human Mutation|October 7, 2008
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNAGaby Tanner, Esther Glaus, Daniel Barthelmes, et al.Human Mutation|October 7, 2008
Emerging themes and new challenges in defining the role of structural variation in human diseaseAndrew J SharpHuman Mutation|January 30, 2009
S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcomeOliver Vugrek, Robert Beluzić, Nikolina Nakić, et al.Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.Human Mutation|October 8, 2005
Genetic variant characterization in intron 4 of the surfactant protein B geneAaron Hamvas, Daniel J Wegner, Michelle A Trusgnich, et al.Human Mutation|May 18, 2004
PromoLign: a database for upstream region analysis and SNPsTao Zhao, Li-Wei Chang, Howard L McLeod, et al.Human Mutation|May 18, 2004
Identification of a functional mutation in pp32r1 (ANP32C)G John Kochevar, Jonathan R Brody, ShriHari S Kadkol, et al.Human Mutation|May 18, 2004
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated geneNobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase, et al.Human Mutation|May 18, 2004
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphismsMagda Montfort, Amparo Chabás, Lluïsa Vilageliu, et al.Pageof 583