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Human Mutation
|
August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
Enrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
American Journal of Human Genetics
|
September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance
Penelope E Bonnen, John W Yarham, Arnaud Besse, et al.
JAMA
|
July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Robert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology
|
October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová, Steven A Hardy, Julie Hall, et al.
American Journal of Human Genetics
|
July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Charlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Human Mutation
|
August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
Enrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
American Journal of Human Genetics
|
September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance
Penelope E Bonnen, John W Yarham, Arnaud Besse, et al.
JAMA
|
July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Robert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology
|
October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová, Steven A Hardy, Julie Hall, et al.
American Journal of Human Genetics
|
July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Charlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Page
of 2