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Human mutation

Showing results (681-690 of 6,544) with videos related to

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Human Mutation|May 4, 2011
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemiaIsabel De Castro-Orós, Sandra Pampín, Alfonso Bolado-Carrancio, et al.
Human Mutation|May 5, 2011
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and miceChristian Babbs, Helen S Stewart, Louise J Williams, et al.
Human Mutation|May 5, 2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromesMachteld Baetens, Lut Van Laer, Kim De Leeneer, et al.
Human Mutation|May 5, 2011
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonismJin-Sung Park, Prachi Mehta, Antony A Cooper, et al.
Human Mutation|May 28, 2011
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancerHeide Hellebrand, Christian Sutter, Ellen Honisch, et al.
Human Mutation|May 28, 2011
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosaPaola Benaglio, Terri L McGee, Leonardo P Capelli, et al.
Human Mutation|March 18, 2011
SNP and haplotype analysis reveals new HFE variants associated with iron overload traitYizhen Yang, Claude Férec, Catherine Mura
Human Mutation|March 18, 2011
Performance of mutation pathogenicity prediction methods on missense variantsJanita Thusberg, Ayodeji Olatubosun, Mauno Vihinen
Human Mutation|March 18, 2011
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryosThierry Voet, Evelyne Vanneste, Niels Van der Aa, et al.
Human Mutation|February 1, 2011
Novel genomic techniques open new avenues in the analysis of monogenic disordersGregor Kuhlenbäumer, Julia Hullmann, Silke Appenzeller
Pageof 655

Showing results (681-690 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|May 4, 2011
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemiaIsabel De Castro-Orós, Sandra Pampín, Alfonso Bolado-Carrancio, et al.
Human Mutation|May 5, 2011
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and miceChristian Babbs, Helen S Stewart, Louise J Williams, et al.
Human Mutation|May 5, 2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromesMachteld Baetens, Lut Van Laer, Kim De Leeneer, et al.
Human Mutation|May 5, 2011
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonismJin-Sung Park, Prachi Mehta, Antony A Cooper, et al.
Human Mutation|May 28, 2011
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancerHeide Hellebrand, Christian Sutter, Ellen Honisch, et al.
Human Mutation|May 28, 2011
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosaPaola Benaglio, Terri L McGee, Leonardo P Capelli, et al.
Human Mutation|March 18, 2011
SNP and haplotype analysis reveals new HFE variants associated with iron overload traitYizhen Yang, Claude Férec, Catherine Mura
Human Mutation|March 18, 2011
Performance of mutation pathogenicity prediction methods on missense variantsJanita Thusberg, Ayodeji Olatubosun, Mauno Vihinen
Human Mutation|March 18, 2011
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryosThierry Voet, Evelyne Vanneste, Niels Van der Aa, et al.
Human Mutation|February 1, 2011
Novel genomic techniques open new avenues in the analysis of monogenic disordersGregor Kuhlenbäumer, Julia Hullmann, Silke Appenzeller
Pageof 655