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Human Mutation|October 29, 1998
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch populationA Broeks, A de Klein, A N Floore, et al.Human Mutation|October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)P J Waters, M A Parniak, A S Hewson, et al.Human Mutation|January 1, 1996
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathyF Merante, T Myint, I Tein, et al.Human Mutation|January 1, 1996
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomesD Hughes, A Wallace, J Taylor, et al.Human Mutation|January 1, 1996
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutationsD Seto, B D WeintraubHuman Mutation|January 1, 1996
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populationsA Yamagishi, S Tomatsu, S Fukuda, et al.Human Mutation|January 1, 1996
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndromeJ H Asher, A Sommer, R Morell, et al.Human Mutation|January 1, 1996
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth diseaseB B Roa, L E Warner, C A Garcia, et al.Human Mutation|January 1, 1996
Molecular genetics of human antithrombin deficiencyD J Perry, R W CarrellHuman Mutation|September 2, 2025
Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting <i>PARN</i> Gene in Dyskeratosis CongenitaQiaoyu Cao, Anqi Zhao, Zhoukai Long, et al.Pageof 574