Human mutation - JoVE Visualize

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Human Mutation|February 22, 2002

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell linesBelén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, et al.

Human Mutation|February 22, 2002

Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP)Charlotte Wennberg, Alexey Kozlenkov, Sonia Di Mauro, et al.

Human Mutation|February 22, 2002

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1DBenigna von Brederlow, Hanno Bolz, Andreas Janecke, et al.

Human Mutation|February 22, 2002

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese populationUi-Soon Khoo, Kelvin Y K Chan, Annie N Y Cheung, et al.

Human Mutation|February 22, 2002

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.

Human Mutation|February 22, 2002

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromasLan Kluwe, Reinhard E Friedrich, Bruce Korf, et al.

Human Mutation|January 6, 2006

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicingJessie Auclair, Marie Pierre Busine, Claudine Navarro, et al.

Human Mutation|January 6, 2006

Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patientsM Goldberg, C Rummelt, S Foja, et al.

Human Mutation|January 21, 2006

Distribution of human SNPs and its effect on high-throughput genotypingDaniel C Koboldt, Raymond D Miller, Pui-Yan Kwok

Human Mutation|January 24, 2006

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertensionMicheala A Aldred, Jairam Vijayakrishnan, Victoria James, et al.

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Showing results (1931-1940 of 5,822) with videos related to

Sort By:

Pageof 583

Human Mutation|February 22, 2002

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell linesBelén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, et al.

Human Mutation|February 22, 2002

Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP)Charlotte Wennberg, Alexey Kozlenkov, Sonia Di Mauro, et al.

Human Mutation|February 22, 2002

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1DBenigna von Brederlow, Hanno Bolz, Andreas Janecke, et al.

Human Mutation|February 22, 2002

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese populationUi-Soon Khoo, Kelvin Y K Chan, Annie N Y Cheung, et al.

Human Mutation|February 22, 2002

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.

Human Mutation|February 22, 2002

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromasLan Kluwe, Reinhard E Friedrich, Bruce Korf, et al.

Human Mutation|January 6, 2006

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicingJessie Auclair, Marie Pierre Busine, Claudine Navarro, et al.

Human Mutation|January 6, 2006

Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patientsM Goldberg, C Rummelt, S Foja, et al.

Human Mutation|January 21, 2006

Distribution of human SNPs and its effect on high-throughput genotypingDaniel C Koboldt, Raymond D Miller, Pui-Yan Kwok

Human Mutation|January 24, 2006

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertensionMicheala A Aldred, Jairam Vijayakrishnan, Victoria James, et al.

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