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Shamima Rahman

Showing results (101-110 of 182) with videos related to

Pageof 19
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Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Medical Genetics|March 8, 2011
Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Human Molecular Genetics|May 30, 2015
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Pageof 19

Showing results (101-110 of 182) with videos related to

Sort By:
Pageof 19
Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.
Journal of Medical Genetics|March 8, 2011
Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Human Molecular Genetics|May 30, 2015
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Pageof 19