Human mutation - JoVE Visualize

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Human Mutation|June 21, 2006

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assemblyFelix B Müller, Wolfgang Küster, Kerstin Wodecki, et al.

Human Mutation|June 21, 2006

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 geneEtienne Patin, Christine Harmant, Ken K Kidd, et al.

Human Mutation|June 21, 2006

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.

Human Mutation|June 21, 2006

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institutionBenoît Guillet, Thierry Lambert, Roseline d'Oiron, et al.

Human Mutation|June 23, 2006

Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterizationAna B Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, et al.

Human Mutation|September 27, 2006

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.

Human Mutation|May 8, 2007

Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathyGui-Sen Li, Li Zhu, Hong Zhang, et al.

Human Mutation|June 9, 2007

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivationJessie Auclair, Dominique Leroux, Françoise Desseigne, et al.

Human Mutation|February 14, 2007

Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variantsThomas Hocker, Hensin Tsao

Human Mutation|February 14, 2007

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domainBrigitte Chhin, Minoru Hatayama, Dominique Bozon, et al.

Pageof 577

Showing results (151-160 of 5,765) with videos related to

Sort By:

Pageof 577

Human Mutation|June 21, 2006

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assemblyFelix B Müller, Wolfgang Küster, Kerstin Wodecki, et al.

Human Mutation|June 21, 2006

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 geneEtienne Patin, Christine Harmant, Ken K Kidd, et al.

Human Mutation|June 21, 2006

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.

Human Mutation|June 21, 2006

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institutionBenoît Guillet, Thierry Lambert, Roseline d'Oiron, et al.

Human Mutation|June 23, 2006

Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterizationAna B Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, et al.

Human Mutation|September 27, 2006

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.

Human Mutation|May 8, 2007

Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathyGui-Sen Li, Li Zhu, Hong Zhang, et al.

Human Mutation|June 9, 2007

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivationJessie Auclair, Dominique Leroux, Françoise Desseigne, et al.

Human Mutation|February 14, 2007

Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variantsThomas Hocker, Hensin Tsao

Human Mutation|February 14, 2007

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domainBrigitte Chhin, Minoru Hatayama, Dominique Bozon, et al.

Pageof 577