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Human mutation

Showing results (281-290 of 6,541) with videos related to

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Human Mutation|May 23, 2020
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutationsManuel C Lemos, Rajesh V Thakker
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Human Mutation|August 18, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe diseaseMonica Y Niño, Stijn L M In't Groen, Douglas O S de Faria, et al.
Human Mutation|September 15, 2021
Epidemiological aspects of hereditary fructose intolerance: A database studyFranciele C Pinheiro, Fernanda Sperb-Ludwig, Ida V D Schwartz
Human Mutation|April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemiaDiana Gallego, Fátima Leal, Alejandra Gámez, et al.
Human Mutation|April 26, 2020
The EAHAD blood coagulation factor VII variant databaseMuriel Giansily-Blaizot, Pavithra M Rallapalli, Stephen J Perkins, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Human Mutation|May 14, 2020
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domainRumiko Izumi, Toshiaki Takahashi, Naoki Suzuki, et al.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Pageof 655

Showing results (281-290 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|May 23, 2020
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutationsManuel C Lemos, Rajesh V Thakker
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Human Mutation|August 18, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe diseaseMonica Y Niño, Stijn L M In't Groen, Douglas O S de Faria, et al.
Human Mutation|September 15, 2021
Epidemiological aspects of hereditary fructose intolerance: A database studyFranciele C Pinheiro, Fernanda Sperb-Ludwig, Ida V D Schwartz
Human Mutation|April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemiaDiana Gallego, Fátima Leal, Alejandra Gámez, et al.
Human Mutation|April 26, 2020
The EAHAD blood coagulation factor VII variant databaseMuriel Giansily-Blaizot, Pavithra M Rallapalli, Stephen J Perkins, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Human Mutation|May 14, 2020
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domainRumiko Izumi, Toshiaki Takahashi, Naoki Suzuki, et al.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Pageof 655