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Human mutation

Showing results (231-240 of 6,541) with videos related to

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Human Mutation|February 18, 2021
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a modelAimee L Davidson, Conrad Leonard, Lambros T Koufariotis, et al.
Human Mutation|February 18, 2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)Gijs A C Franken, Dominik Müller, Cyril Mignot, et al.
Human Mutation|February 18, 2021
Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1Imène Sakhi, Yohan Bignon, Nadia Frachon, et al.
Human Mutation|February 15, 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new casesRebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
Human Mutation|January 27, 2021
Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes projectHuijun Wang, Feifan Xiao, Xinran Dong, et al.
Human Mutation|January 27, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in IndiansNeethukrishna Kausthubham, Anju Shukla, Neerja Gupta, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
Human Mutation|September 26, 2019
Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?Cleo Keppens, Véronique Tack, Kelly Dufraing, et al.
Pageof 655

Showing results (231-240 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|February 18, 2021
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a modelAimee L Davidson, Conrad Leonard, Lambros T Koufariotis, et al.
Human Mutation|February 18, 2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)Gijs A C Franken, Dominik Müller, Cyril Mignot, et al.
Human Mutation|February 18, 2021
Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1Imène Sakhi, Yohan Bignon, Nadia Frachon, et al.
Human Mutation|February 15, 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new casesRebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
Human Mutation|January 27, 2021
Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes projectHuijun Wang, Feifan Xiao, Xinran Dong, et al.
Human Mutation|January 27, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in IndiansNeethukrishna Kausthubham, Anju Shukla, Neerja Gupta, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
Human Mutation|September 26, 2019
Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?Cleo Keppens, Véronique Tack, Kelly Dufraing, et al.
Pageof 655