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Human mutation

Showing results (1451-1460 of 5,734) with videos related to

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Human Mutation|February 1, 2011
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranesJ Des Parkin, James D San Antonio, Vadim Pedchenko, et al.
Human Mutation|February 1, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsPauline Krug, Vincent Morinière, Sandrine Marlin, et al.
Human Mutation|February 10, 2011
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, et al.
Human Mutation|February 10, 2011
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defectsJared M Churko, Qing Shao, Xiang-qun Gong, et al.
Human Mutation|March 26, 2011
An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype researchAdam J Webb, Gudmundur A Thorisson, Anthony J Brookes, et al.
Human Mutation|April 23, 2019
A2ML1 and otitis media: novel variants, differential expression, and relevant pathwaysEric D Larson, Jose Pedrito M Magno, Matthew J Steritz, et al.
Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
Human Mutation|May 28, 2019
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell typesAnat Kreimer, Zhongxia Yan, Nadav Ahituv, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Pageof 574

Showing results (1451-1460 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|February 1, 2011
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranesJ Des Parkin, James D San Antonio, Vadim Pedchenko, et al.
Human Mutation|February 1, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsPauline Krug, Vincent Morinière, Sandrine Marlin, et al.
Human Mutation|February 10, 2011
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, et al.
Human Mutation|February 10, 2011
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defectsJared M Churko, Qing Shao, Xiang-qun Gong, et al.
Human Mutation|March 26, 2011
An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype researchAdam J Webb, Gudmundur A Thorisson, Anthony J Brookes, et al.
Human Mutation|April 23, 2019
A2ML1 and otitis media: novel variants, differential expression, and relevant pathwaysEric D Larson, Jose Pedrito M Magno, Matthew J Steritz, et al.
Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
Human Mutation|May 28, 2019
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell typesAnat Kreimer, Zhongxia Yan, Nadav Ahituv, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Pageof 574