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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2014
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
Helen R Griffin, Angela Pyle, Emma L Blakely, et al.
Brain : a Journal of Neurology
|
December 23, 2011
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations
Nichola Z Lax, Roger G Whittaker, Philippa D Hepplewhite, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
Helen Swalwell, Emma L Blakely, Ruth Sutton, et al.
Brain : a Journal of Neurology
|
November 27, 2013
Disease progression in patients with single, large-scale mitochondrial DNA deletions
John P Grady, Georgia Campbell, Thiloka Ratnaike, et al.
JAMA Neurology
|
April 26, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
Mika H Martikainen, Yi Shiau Ng, Gráinne S Gorman, et al.
The New England Journal of Medicine
|
July 21, 2025
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease
Robert McFarland, Louise A Hyslop, Catherine Feeney, et al.
Pediatric Research
|
February 24, 2006
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis
Emma L Blakely, Katherine J Rennie, Linda Jones, et al.
Carcinogenesis
|
April 8, 2020
Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells
Sophie Haumann, Julia Boix, Jana Knuever, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2010
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO
Laura C Greaves, Patrick Yu-Wai-Man, Emma L Blakely, et al.
Human Genetics
|
May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
Charlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
Page
of 10
Search research articles
Search
Showing results (51-60 of 95) with videos related to
Sort By:
Page
of 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2014
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
Helen R Griffin, Angela Pyle, Emma L Blakely, et al.
Brain : a Journal of Neurology
|
December 23, 2011
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations
Nichola Z Lax, Roger G Whittaker, Philippa D Hepplewhite, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
Helen Swalwell, Emma L Blakely, Ruth Sutton, et al.
Brain : a Journal of Neurology
|
November 27, 2013
Disease progression in patients with single, large-scale mitochondrial DNA deletions
John P Grady, Georgia Campbell, Thiloka Ratnaike, et al.
JAMA Neurology
|
April 26, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
Mika H Martikainen, Yi Shiau Ng, Gráinne S Gorman, et al.
The New England Journal of Medicine
|
July 21, 2025
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease
Robert McFarland, Louise A Hyslop, Catherine Feeney, et al.
Pediatric Research
|
February 24, 2006
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis
Emma L Blakely, Katherine J Rennie, Linda Jones, et al.
Carcinogenesis
|
April 8, 2020
Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells
Sophie Haumann, Julia Boix, Jana Knuever, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2010
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO
Laura C Greaves, Patrick Yu-Wai-Man, Emma L Blakely, et al.
Human Genetics
|
May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
Charlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
Page
of 10