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Human mutation

Showing results (261-270 of 6,541) with videos related to

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Human Mutation|September 18, 2022
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndromeErnestine Treimer, Tugba Kalayci, Sven Schumann, et al.
Human Mutation|September 25, 2022
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33AElena V Pavlova, Dorit Lev, Marina Michelson, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
Human Mutation|October 8, 2022
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationshipsZe-Xu Chen, Wan-Nan Jia, Yang Sun, et al.
Human Mutation|March 14, 2021
KATK: Fast genotyping of rare variants directly from unmapped sequencing readsLauris Kaplinski, Märt Möls, Tarmo Puurand, et al.
Human Mutation|March 6, 2021
Altered DNA repair creates novel Alu/Alu repeat-mediated deletionsMaria E Morales, Tiffany Kaul, JaNiece Walker, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Human Mutation|November 1, 2022
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locusZhixuan Chen, Jieqiong Chen, Min Gao, et al.
Human Mutation|July 7, 2015
In Memoriam: Richard G.H. Cotton (1940-2015)Haig H Kazazian, Mark H Paalman, Garry R Cutting
Human Mutation|July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeBrianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Pageof 655

Showing results (261-270 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|September 18, 2022
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndromeErnestine Treimer, Tugba Kalayci, Sven Schumann, et al.
Human Mutation|September 25, 2022
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33AElena V Pavlova, Dorit Lev, Marina Michelson, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
Human Mutation|October 8, 2022
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationshipsZe-Xu Chen, Wan-Nan Jia, Yang Sun, et al.
Human Mutation|March 14, 2021
KATK: Fast genotyping of rare variants directly from unmapped sequencing readsLauris Kaplinski, Märt Möls, Tarmo Puurand, et al.
Human Mutation|March 6, 2021
Altered DNA repair creates novel Alu/Alu repeat-mediated deletionsMaria E Morales, Tiffany Kaul, JaNiece Walker, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Human Mutation|November 1, 2022
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locusZhixuan Chen, Jieqiong Chen, Min Gao, et al.
Human Mutation|July 7, 2015
In Memoriam: Richard G.H. Cotton (1940-2015)Haig H Kazazian, Mark H Paalman, Garry R Cutting
Human Mutation|July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeBrianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Pageof 655