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The Journal of Pediatrics
|
July 20, 2005
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates
Callum J Wilson, Michael Myer, Brian A Darlow, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2026
Mainstreaming genomic testing for mitochondrial disease in Australia
Megan Ball, Naomi Baker, Sze Chern Lim, et al.
Human Molecular Genetics
|
February 14, 2015
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I
Luke E Formosa, Masakazu Mimaki, Ann E Frazier, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
Teresa Zhao, Kirsten Allan, Juliet Taylor, et al.
Orphanet Journal of Rare Diseases
|
November 29, 2024
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
Francisco Santos Gonzalez, Daniella H Hock, David R Thorburn, et al.
Nature Reviews. Disease Primers
|
October 25, 2016
Mitochondrial diseases
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, et al.
Journal of Inherited Metabolic Disease
|
December 21, 2016
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Plos One
|
August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
David K Miller, Minal J Menezes, Cas Simons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2011
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans
Xiulian Chen, David R Thorburn, Lee-Jun Wong, et al.
Internal Medicine Journal
|
September 21, 2023
Mitochondrial disease in New Zealand: a nationwide prevalence study
Sarah Missen, Callum Wilson, Howard Potter, et al.
Page
of 18
Search research articles
Search
Showing results (51-60 of 173) with videos related to
Sort By:
Page
of 18
The Journal of Pediatrics
|
July 20, 2005
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates
Callum J Wilson, Michael Myer, Brian A Darlow, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2026
Mainstreaming genomic testing for mitochondrial disease in Australia
Megan Ball, Naomi Baker, Sze Chern Lim, et al.
Human Molecular Genetics
|
February 14, 2015
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I
Luke E Formosa, Masakazu Mimaki, Ann E Frazier, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
Teresa Zhao, Kirsten Allan, Juliet Taylor, et al.
Orphanet Journal of Rare Diseases
|
November 29, 2024
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
Francisco Santos Gonzalez, Daniella H Hock, David R Thorburn, et al.
Nature Reviews. Disease Primers
|
October 25, 2016
Mitochondrial diseases
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, et al.
Journal of Inherited Metabolic Disease
|
December 21, 2016
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Plos One
|
August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
David K Miller, Minal J Menezes, Cas Simons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2011
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans
Xiulian Chen, David R Thorburn, Lee-Jun Wong, et al.
Internal Medicine Journal
|
September 21, 2023
Mitochondrial disease in New Zealand: a nationwide prevalence study
Sarah Missen, Callum Wilson, Howard Potter, et al.
Page
of 18