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Shamima Rahman

Showing results (61-70 of 182) with videos related to

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Journal of Inherited Metabolic Disease|April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interestJohannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
Human Molecular Genetics|October 12, 2014
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing lossMary O'Sullivan, Paul Rutland, Deirdre Lucas, et al.
Intensive Care Medicine|April 30, 2015
Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in childrenSainath Raman, Nigel Klein, Antonia Kwan, et al.
European Journal of Heart Failure|January 20, 2010
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain diseaseGiuseppe Limongelli, Maite Tome-Esteban, Charungthai Dejthevaporn, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutationsRojeen Shahni, Yehani Wedatilake, Maureen A Cleary, et al.
BMJ Case Reports|October 9, 2013
Treatable Leigh-like encephalopathy presenting in adolescenceElisa Fassone, Yehani Wedatilake, Catherine J DeVile, et al.
Frontiers in Physiology|July 25, 2017
Human COQ9 Rescues a <i>coq9</i> Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-SynthomeCuiwen H He, Dylan S Black, Christopher M Allan, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.
The New England Journal of Medicine|February 7, 2009
Prevalence of mitochondrial 1555A-->G mutation in European childrenMaria Bitner-Glindzicz, Marcus Pembrey, Andrew Duncan, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
Pageof 19

Showing results (61-70 of 182) with videos related to

Sort By:
Pageof 19
Journal of Inherited Metabolic Disease|April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interestJohannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
Human Molecular Genetics|October 12, 2014
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing lossMary O'Sullivan, Paul Rutland, Deirdre Lucas, et al.
Intensive Care Medicine|April 30, 2015
Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in childrenSainath Raman, Nigel Klein, Antonia Kwan, et al.
European Journal of Heart Failure|January 20, 2010
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain diseaseGiuseppe Limongelli, Maite Tome-Esteban, Charungthai Dejthevaporn, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutationsRojeen Shahni, Yehani Wedatilake, Maureen A Cleary, et al.
BMJ Case Reports|October 9, 2013
Treatable Leigh-like encephalopathy presenting in adolescenceElisa Fassone, Yehani Wedatilake, Catherine J DeVile, et al.
Frontiers in Physiology|July 25, 2017
Human COQ9 Rescues a <i>coq9</i> Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-SynthomeCuiwen H He, Dylan S Black, Christopher M Allan, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.
The New England Journal of Medicine|February 7, 2009
Prevalence of mitochondrial 1555A-->G mutation in European childrenMaria Bitner-Glindzicz, Marcus Pembrey, Andrew Duncan, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
Pageof 19