Human mutation - JoVE Visualize

Showing results (951-960 of 5,770) with videos related to

Pageof 577

Sort By:

Human Mutation|November 8, 2006

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural modelsRebecca E Saunders, Cynthia Abarrategui-Garrido, Véronique Frémeaux-Bacchi, et al.

Human Mutation|February 20, 2007

Progress in understanding the biology of the human mutagen LINE-1Daria V Babushok, Haig H Kazazian

Human Mutation|February 22, 2007

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patientsAlberto Cascón, Beatriz Escobar, Cristina Montero-Conde, et al.

Human Mutation|March 6, 2007

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activityAtsuhiro Kanda, James S Friedman, Koji M Nishiguchi, et al.

Human Mutation|March 22, 2007

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.

Human Mutation|March 9, 2007

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Nathalie Delphin, Sylvain Hanein, et al.

Human Mutation|April 3, 2007

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.

Human Mutation|April 3, 2007

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.

Human Mutation|April 3, 2007

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. OnlineAnubha Mahajan, Sreenivas Chavali, Saurabh Ghosh, et al.

Human Mutation|February 28, 2007

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogeneEva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, et al.

Pageof 577

Showing results (951-960 of 5,770) with videos related to

Sort By:

Pageof 577

Human Mutation|November 8, 2006

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural modelsRebecca E Saunders, Cynthia Abarrategui-Garrido, Véronique Frémeaux-Bacchi, et al.

Human Mutation|February 20, 2007

Progress in understanding the biology of the human mutagen LINE-1Daria V Babushok, Haig H Kazazian

Human Mutation|February 22, 2007

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patientsAlberto Cascón, Beatriz Escobar, Cristina Montero-Conde, et al.

Human Mutation|March 6, 2007

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activityAtsuhiro Kanda, James S Friedman, Koji M Nishiguchi, et al.

Human Mutation|March 22, 2007

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.

Human Mutation|March 9, 2007

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Nathalie Delphin, Sylvain Hanein, et al.

Human Mutation|April 3, 2007

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.

Human Mutation|April 3, 2007

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.

Human Mutation|April 3, 2007

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. OnlineAnubha Mahajan, Sreenivas Chavali, Saurabh Ghosh, et al.

Human Mutation|February 28, 2007

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogeneEva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, et al.

Pageof 577