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Human mutation

Showing results (901-910 of 6,545) with videos related to

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Human Mutation|May 18, 2004
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locusShunji Tomatsu, Koji O Orii, Y Bi, et al.
Human Mutation|May 18, 2004
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locusJianxin Duan, Lennart Nilsson, Bo Lambert
Human Mutation|May 18, 2004
Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancerBeate Betz, Andrea R Florl, Hans-Helge Seifert, et al.
Human Mutation|May 18, 2004
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinismSven Opitz, Barbara Käsmann-Kellner, Markus Kaufmann, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Human Mutation|March 17, 2004
Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer diseaseNilüfer Ertekin-Taner, Mariet Allen, Daniel Fadale, et al.
Human Mutation|March 17, 2004
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanismsMarie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, et al.
Human Mutation|March 17, 2004
Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based MethodIsabelle Tournier, Grégory Raux, Fréderic Di Fiore, et al.
Human Mutation|March 17, 2004
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutationJian-Hua Feng, Toshiyuki Yamamoto, Eiji Nanba, et al.
Human Mutation|March 17, 2004
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patientsMarta M Deguti, Janine Genschel, Eduardo L R Cancado, et al.
Pageof 655

Showing results (901-910 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|May 18, 2004
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locusShunji Tomatsu, Koji O Orii, Y Bi, et al.
Human Mutation|May 18, 2004
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locusJianxin Duan, Lennart Nilsson, Bo Lambert
Human Mutation|May 18, 2004
Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancerBeate Betz, Andrea R Florl, Hans-Helge Seifert, et al.
Human Mutation|May 18, 2004
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinismSven Opitz, Barbara Käsmann-Kellner, Markus Kaufmann, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Human Mutation|March 17, 2004
Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer diseaseNilüfer Ertekin-Taner, Mariet Allen, Daniel Fadale, et al.
Human Mutation|March 17, 2004
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanismsMarie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, et al.
Human Mutation|March 17, 2004
Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based MethodIsabelle Tournier, Grégory Raux, Fréderic Di Fiore, et al.
Human Mutation|March 17, 2004
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutationJian-Hua Feng, Toshiyuki Yamamoto, Eiji Nanba, et al.
Human Mutation|March 17, 2004
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patientsMarta M Deguti, Janine Genschel, Eduardo L R Cancado, et al.
Pageof 655