Human mutation - JoVE Visualize

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Human Mutation|July 13, 2005

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.

Human Mutation|February 14, 2007

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsMarguerite Neerman-Arbez, Philippe de Moerloose

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.

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Showing results (2401-2410 of 5,743) with videos related to

Sort By:

Pageof 575

Human Mutation|July 13, 2005

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.

Human Mutation|February 14, 2007

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsMarguerite Neerman-Arbez, Philippe de Moerloose

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.

Pageof 575