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Human mutation

Showing results (211-220 of 6,541) with videos related to

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Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
Human Mutation|January 8, 2019
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseasesQingfeng Wang, Guannan Su, Xiao Tan, et al.
Human Mutation|December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implicationsClaudia Castiglioni, François Feillet, Christine Barnerias, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Human Mutation|November 30, 2020
GRIN database: A unified and manually curated repertoire of GRIN variantsAdrián García-Recio, Ana Santos-Gómez, David Soto, et al.
Human Mutation|December 19, 2017
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease databaseZeynep Tümer, Julia Angélica López-Hernández, Irène Netchine, et al.
Human Mutation|December 28, 2017
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11Annelot Baert, Eva Machackova, Ilse Coene, et al.
Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
Human Mutation|December 21, 2013
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethalityStefanie Belet, Nathalie Fieremans, Xuan Yuan, et al.
Pageof 655

Showing results (211-220 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
Human Mutation|January 8, 2019
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseasesQingfeng Wang, Guannan Su, Xiao Tan, et al.
Human Mutation|December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implicationsClaudia Castiglioni, François Feillet, Christine Barnerias, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Human Mutation|November 30, 2020
GRIN database: A unified and manually curated repertoire of GRIN variantsAdrián García-Recio, Ana Santos-Gómez, David Soto, et al.
Human Mutation|December 19, 2017
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease databaseZeynep Tümer, Julia Angélica López-Hernández, Irène Netchine, et al.
Human Mutation|December 28, 2017
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11Annelot Baert, Eva Machackova, Ilse Coene, et al.
Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
Human Mutation|December 21, 2013
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethalityStefanie Belet, Nathalie Fieremans, Xuan Yuan, et al.
Pageof 655