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Showing results (61-70 of 76) with videos related to

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Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenancePenelope E Bonnen, John W Yarham, Arnaud Besse, et al.
Human Mutation|October 19, 2017
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiencyMay Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
EMBO Molecular Medicine|September 12, 2018
<i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defectKyle Thompson, Nicole Mai, Monika Oláhová, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology|October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristicsRobert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenancePenelope E Bonnen, John W Yarham, Arnaud Besse, et al.
Human Mutation|October 19, 2017
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiencyMay Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
EMBO Molecular Medicine|September 12, 2018
<i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defectKyle Thompson, Nicole Mai, Monika Oláhová, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology|October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristicsRobert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Pageof 8