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Human mutation

Showing results (191-200 of 6,541) with videos related to

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Human Mutation|November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersKathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Human Mutation|February 1, 2019
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variantsXiaojin Li, Wei Zhang, Donghu Zhou, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Human Mutation|February 12, 2019
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafnessBong Jik Kim, Dong-Kyu Kim, Jin Hee Han, et al.
Human Mutation|December 12, 2019
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patientsXianqi Gao, Xiyan Nan, Yilan Liu, et al.
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Human Mutation|March 1, 2020
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic featuresRami A Ballout, Cheryl Dickerson, Myra J Wick, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Pageof 655

Showing results (191-200 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersKathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Human Mutation|February 1, 2019
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variantsXiaojin Li, Wei Zhang, Donghu Zhou, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Human Mutation|February 12, 2019
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafnessBong Jik Kim, Dong-Kyu Kim, Jin Hee Han, et al.
Human Mutation|December 12, 2019
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patientsXianqi Gao, Xiyan Nan, Yilan Liu, et al.
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Human Mutation|March 1, 2020
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic featuresRami A Ballout, Cheryl Dickerson, Myra J Wick, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Pageof 655