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Brain : a Journal of Neurology
|
February 21, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
Mike Gerards, Rick Kamps, Jo van Oevelen, et al.
Brain : a Journal of Neurology
|
October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Mike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2006
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients
Rudy G E van Eijsden, Mike Gerards, Lars M T Eijssen, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2021
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
Le Guo, Bob P H Engelen, Irene M G M Hemel, et al.
Cell Reports
|
July 5, 2016
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells
Auke B C Otten, Tom E J Theunissen, Josien G Derhaag, et al.
Frontiers in Molecular Neuroscience
|
November 3, 2017
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
Tom E J Theunissen, Mike Gerards, Debby M E I Hellebrekers, et al.
Frontiers in Neurology
|
December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Tom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
American Journal of Human Genetics
|
August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Frontiers in Genetics
|
October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Tom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
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of 3
Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
Brain : a Journal of Neurology
|
February 21, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
Mike Gerards, Rick Kamps, Jo van Oevelen, et al.
Brain : a Journal of Neurology
|
October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Mike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2006
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients
Rudy G E van Eijsden, Mike Gerards, Lars M T Eijssen, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2021
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
Le Guo, Bob P H Engelen, Irene M G M Hemel, et al.
Cell Reports
|
July 5, 2016
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells
Auke B C Otten, Tom E J Theunissen, Josien G Derhaag, et al.
Frontiers in Molecular Neuroscience
|
November 3, 2017
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
Tom E J Theunissen, Mike Gerards, Debby M E I Hellebrekers, et al.
Frontiers in Neurology
|
December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Tom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
American Journal of Human Genetics
|
August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Frontiers in Genetics
|
October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Tom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
Page
of 3