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Human mutation

Showing results (391-400 of 6,541) with videos related to

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Human Mutation|January 1, 1997
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)A Järvikallio, L Pulkkinen, J Uitto
Human Mutation|January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueR G Boot, C E Hollak, M Verhoek, et al.
Human Mutation|January 1, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.
Human Mutation|January 1, 1997
Analysis of multiple mitochondrial DNA deletions in inclusion body myositisA R Moslemi, C Lindberg, A Oldfors
Human Mutation|January 1, 1997
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patientsT Casals, P Pacheco, C Barreto, et al.
Human Mutation|January 1, 1997
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndromeY C Wang, M L Lin, S J Lin, et al.
Human Mutation|April 1, 1998
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) geneY Z Du, A K Srivastava, C E Schwartz
Human Mutation|April 1, 1998
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostosesW H Raskind, E U Conrad, M Matsushita, et al.
Human Mutation|January 1, 1997
Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomasJ Yin, D Kong, S Wang, et al.
Human Mutation|January 1, 1997
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasiaR W Lanning, C A Brown
Pageof 655

Showing results (391-400 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1997
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)A Järvikallio, L Pulkkinen, J Uitto
Human Mutation|January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueR G Boot, C E Hollak, M Verhoek, et al.
Human Mutation|January 1, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.
Human Mutation|January 1, 1997
Analysis of multiple mitochondrial DNA deletions in inclusion body myositisA R Moslemi, C Lindberg, A Oldfors
Human Mutation|January 1, 1997
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patientsT Casals, P Pacheco, C Barreto, et al.
Human Mutation|January 1, 1997
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndromeY C Wang, M L Lin, S J Lin, et al.
Human Mutation|April 1, 1998
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) geneY Z Du, A K Srivastava, C E Schwartz
Human Mutation|April 1, 1998
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostosesW H Raskind, E U Conrad, M Matsushita, et al.
Human Mutation|January 1, 1997
Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomasJ Yin, D Kong, S Wang, et al.
Human Mutation|January 1, 1997
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasiaR W Lanning, C A Brown
Pageof 655