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Human mutation

Showing results (291-300 of 6,541) with videos related to

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Human Mutation|December 18, 2004
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, et al.
Human Mutation|January 12, 2005
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian studyGeneviève Michils, Sabine Tejpar, Reinhilde Thoelen, et al.
Human Mutation|January 12, 2005
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese familiesSuqin Chen, Chun Song, Hui Guo, et al.
Human Mutation|January 12, 2005
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28aGabriela Coutinho, Jiuyong Xie, Liutao Du, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|January 12, 2005
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophyGiorgia Montagna, Antonella Di Biase, Marco Cappa, et al.
Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.
Human Mutation|April 21, 2005
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenitaNils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, et al.
Human Mutation|April 16, 2005
eOPA1: an online database for OPA1 mutationsMarc Ferré, Patrizia Amati-Bonneau, Yves Tourmen, et al.
Human Mutation|April 16, 2005
A separation-free assay for the detection of mutations: combination of homogeneous time-resolved fluorescence and minisequencingEvelyne Lopez-Crapez, Hervé Bazin, Julien Chevalier, et al.
Pageof 655

Showing results (291-300 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|December 18, 2004
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, et al.
Human Mutation|January 12, 2005
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian studyGeneviève Michils, Sabine Tejpar, Reinhilde Thoelen, et al.
Human Mutation|January 12, 2005
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese familiesSuqin Chen, Chun Song, Hui Guo, et al.
Human Mutation|January 12, 2005
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28aGabriela Coutinho, Jiuyong Xie, Liutao Du, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|January 12, 2005
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophyGiorgia Montagna, Antonella Di Biase, Marco Cappa, et al.
Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.
Human Mutation|April 21, 2005
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenitaNils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, et al.
Human Mutation|April 16, 2005
eOPA1: an online database for OPA1 mutationsMarc Ferré, Patrizia Amati-Bonneau, Yves Tourmen, et al.
Human Mutation|April 16, 2005
A separation-free assay for the detection of mutations: combination of homogeneous time-resolved fluorescence and minisequencingEvelyne Lopez-Crapez, Hervé Bazin, Julien Chevalier, et al.
Pageof 655