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Human mutation

Showing results (1041-1050 of 6,552) with videos related to

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Human Mutation|April 24, 2001
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness familiesZ H Shah, M Toompuu, T Hakkinen, et al.
Human Mutation|January 11, 2000
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) allelesA Elmgren, C Börjeson, R Mollicone, et al.
Human Mutation|January 11, 2000
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancerR Shiri-Sverdlov, P Oefner, L Green, et al.
Human Mutation|January 11, 2000
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)S Prasad, R A Cucci, G E Green, et al.
Human Mutation|January 11, 2000
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C contentJ L Escary, M Cécillon, J Maciazek, et al.
Human Mutation|December 5, 2000
Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)Escary, Cecillon, Maciazek, et al.
Human Mutation|January 11, 2000
Polymorphisms in a pseudogene highly homologous to PMS2R B Chadwick, J E Meek, T W Prior, et al.
Human Mutation|January 11, 2000
Molecular analysis of the TFR2 gene: report of a novel polymorphism (1878C>T)M Meregalli, A Pellagatti, E Bissolotti, et al.
Human Mutation|January 11, 2000
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patientM Seia, A Cantù-Rajnoldi, A Ambrosioni, et al.
Human Mutation|January 11, 2000
Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) geneP Kloos, S Mergenthaler, M B Ranke, et al.
Pageof 656

Showing results (1041-1050 of 6,552) with videos related to

Sort By:
Pageof 656
Human Mutation|April 24, 2001
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness familiesZ H Shah, M Toompuu, T Hakkinen, et al.
Human Mutation|January 11, 2000
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) allelesA Elmgren, C Börjeson, R Mollicone, et al.
Human Mutation|January 11, 2000
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancerR Shiri-Sverdlov, P Oefner, L Green, et al.
Human Mutation|January 11, 2000
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)S Prasad, R A Cucci, G E Green, et al.
Human Mutation|January 11, 2000
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C contentJ L Escary, M Cécillon, J Maciazek, et al.
Human Mutation|December 5, 2000
Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)Escary, Cecillon, Maciazek, et al.
Human Mutation|January 11, 2000
Polymorphisms in a pseudogene highly homologous to PMS2R B Chadwick, J E Meek, T W Prior, et al.
Human Mutation|January 11, 2000
Molecular analysis of the TFR2 gene: report of a novel polymorphism (1878C>T)M Meregalli, A Pellagatti, E Bissolotti, et al.
Human Mutation|January 11, 2000
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patientM Seia, A Cantù-Rajnoldi, A Ambrosioni, et al.
Human Mutation|January 11, 2000
Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) geneP Kloos, S Mergenthaler, M B Ranke, et al.
Pageof 656