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Human Mutation|January 1, 1994
Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathyK Huoponen, V Juvonen, A Iitiä, et al.Human Mutation|October 13, 2005
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndromeKathrin Rommel, Matthias Karck, Axel Haverich, et al.Human Mutation|April 5, 2002
Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratoryJean Amos, Meeta PatnaikHuman Mutation|April 5, 2002
Analysis of SNPs and other genomic variations using gel-based chipsAlexander Kolchinsky, Andrei MirzabekovHuman Mutation|April 5, 2002
DHPLC screening of cystic fibrosis gene mutationsMetka Ravnik-Glavac, Andrew Atkinson, Damjan Glavac, et al.Human Mutation|April 5, 2002
Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysisDamjan Glavac, Uros Potocnik, Darja Podpecnik, et al.Human Mutation|April 5, 2002
New developments in high-throughput resequencing and variation detection using high density microarraysJanet A Warrington, Nila A Shah, Xiyin Chen, et al.Human Mutation|April 5, 2002
A surface invasive cleavage assay for highly parallel SNP analysisManchun Lu, Michael R Shortreed, Jeff G Hall, et al.Human Mutation|April 5, 2002
Myotonia caused by mutations in the muscle chloride channel gene CLCN1Michael PuschPageof 583