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Human mutation

Showing results (351-360 of 6,541) with videos related to

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Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
Human Mutation|June 26, 2021
Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridiaAlexandra Y Filatova, Tatyana A Vasilyeva, Andrey V Marakhonov, et al.
Human Mutation|June 21, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophyAdnan H Khan, Janice Sutton, Angela J Cree, et al.
Human Mutation|July 10, 2021
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locusStacie K Loftus, Linnea Lundh, Dawn E Watkins-Chow, et al.
Human Mutation|May 11, 2022
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variantsAdrienne Samani, Katherine G English, Michael A Lopez, et al.
Human Mutation|May 27, 2022
Benchmarking of univariate pleiotropy detection methods applied to epilepsyOluyomi M Adesoji, Herbert Schulz, Patrick May, et al.
Human Mutation|December 22, 2017
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation updateHerschel S Dhekne, Olena Pylypenko, Arend W Overeem, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Human Mutation|January 1, 1997
Molecular basis of HNPCC: mutations of MMR genesN Papadopoulos, A Lindblom
Human Mutation|January 1, 1997
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprintingH Peretz, R Luboshitsky, E Baron, et al.
Pageof 655

Showing results (351-360 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
Human Mutation|June 26, 2021
Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridiaAlexandra Y Filatova, Tatyana A Vasilyeva, Andrey V Marakhonov, et al.
Human Mutation|June 21, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophyAdnan H Khan, Janice Sutton, Angela J Cree, et al.
Human Mutation|July 10, 2021
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locusStacie K Loftus, Linnea Lundh, Dawn E Watkins-Chow, et al.
Human Mutation|May 11, 2022
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variantsAdrienne Samani, Katherine G English, Michael A Lopez, et al.
Human Mutation|May 27, 2022
Benchmarking of univariate pleiotropy detection methods applied to epilepsyOluyomi M Adesoji, Herbert Schulz, Patrick May, et al.
Human Mutation|December 22, 2017
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation updateHerschel S Dhekne, Olena Pylypenko, Arend W Overeem, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Human Mutation|January 1, 1997
Molecular basis of HNPCC: mutations of MMR genesN Papadopoulos, A Lindblom
Human Mutation|January 1, 1997
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprintingH Peretz, R Luboshitsky, E Baron, et al.
Pageof 655