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Journal of Inherited Metabolic Disease
|
December 15, 2010
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
Ulrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial disease
Kyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Scientific Reports
|
August 5, 2018
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
Selena Trifunov, Angela Pyle, Maria Lucia Valentino, et al.
Neurobiology of Aging
|
May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old
Joanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.
Neurology. Genetics
|
November 24, 2016
Phenotypic convergence of Menkes and Wilson disease
Boglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neurology
|
February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxia
Gerald Pfeffer, Angela Pyle, Helen Griffin, et al.
NPJ Parkinson'S Disease
|
January 20, 2024
Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression
Benjamin J Whittle, Osagie G Izuogu, Hannah Lowes, et al.
The Journal of Allergy and Clinical Immunology
|
June 21, 2017
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ
John D Widdrington, Aurora Gomez-Duran, Jannetta S Steyn, et al.
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.
JIMD Reports
|
February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
Adela Della Marina, Ulrike Schara, Angela Pyle, et al.
Page
of 12
Search research articles
Search
Showing results (51-60 of 119) with videos related to
Sort By:
Page
of 12
Journal of Inherited Metabolic Disease
|
December 15, 2010
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
Ulrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial disease
Kyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Scientific Reports
|
August 5, 2018
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
Selena Trifunov, Angela Pyle, Maria Lucia Valentino, et al.
Neurobiology of Aging
|
May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old
Joanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.
Neurology. Genetics
|
November 24, 2016
Phenotypic convergence of Menkes and Wilson disease
Boglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neurology
|
February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxia
Gerald Pfeffer, Angela Pyle, Helen Griffin, et al.
NPJ Parkinson'S Disease
|
January 20, 2024
Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression
Benjamin J Whittle, Osagie G Izuogu, Hannah Lowes, et al.
The Journal of Allergy and Clinical Immunology
|
June 21, 2017
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ
John D Widdrington, Aurora Gomez-Duran, Jannetta S Steyn, et al.
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.
JIMD Reports
|
February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
Adela Della Marina, Ulrike Schara, Angela Pyle, et al.
Page
of 12