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Human mutation

Showing results (1541-1550 of 5,734) with videos related to

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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.
Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Human Mutation|February 7, 2007
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosisEsther Pomares, Gemma Marfany, Ma José Brión, et al.
Human Mutation|February 7, 2007
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor informationA Osorio, R L Milne, E Honrado, et al.
Human Mutation|January 16, 2007
Identification of seven novel germline mutations in the human E-cadherin (CDH1) geneH More, B Humar, W Weber, et al.
Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.
Human Mutation|April 5, 2007
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome RegistryJames German, Maureen M Sanz, Susan Ciocci, et al.
Pageof 574

Showing results (1541-1550 of 5,734) with videos related to

Sort By:
Pageof 574
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.
Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Human Mutation|February 7, 2007
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosisEsther Pomares, Gemma Marfany, Ma José Brión, et al.
Human Mutation|February 7, 2007
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor informationA Osorio, R L Milne, E Honrado, et al.
Human Mutation|January 16, 2007
Identification of seven novel germline mutations in the human E-cadherin (CDH1) geneH More, B Humar, W Weber, et al.
Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.
Human Mutation|April 5, 2007
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome RegistryJames German, Maureen M Sanz, Susan Ciocci, et al.
Pageof 574