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Human mutation

Showing results (431-440 of 6,541) with videos related to

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Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Human Mutation|April 13, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approachAliete Wan, Emily Place, Eric A Pierce, et al.
Human Mutation|October 18, 2018
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experienceDorota Rowczenio, Candida C Quarta, Marianna Fontana, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Human Mutation|August 29, 2018
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of FallotRitu Dixit, Chitra Narasimhan, Vijyalakshmi I Balekundri, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Mutation|May 13, 2017
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challengeKunal Kundu, Lipika R Pal, Yizhou Yin, et al.
Human Mutation|May 13, 2017
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduriaTanja Plessl, Céline Bürer, Seraina Lutz, et al.
Human Mutation|May 5, 2018
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levelsElena García-Martín, Francisco J Sánchez-Gómez, Gemma Amo, et al.
Pageof 655

Showing results (431-440 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Human Mutation|April 13, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approachAliete Wan, Emily Place, Eric A Pierce, et al.
Human Mutation|October 18, 2018
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experienceDorota Rowczenio, Candida C Quarta, Marianna Fontana, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Human Mutation|August 29, 2018
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of FallotRitu Dixit, Chitra Narasimhan, Vijyalakshmi I Balekundri, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Mutation|May 13, 2017
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challengeKunal Kundu, Lipika R Pal, Yizhou Yin, et al.
Human Mutation|May 13, 2017
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduriaTanja Plessl, Céline Bürer, Seraina Lutz, et al.
Human Mutation|May 5, 2018
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levelsElena García-Martín, Francisco J Sánchez-Gómez, Gemma Amo, et al.
Pageof 655