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Clinical Chemistry
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March 18, 2006
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology
Antoon J M Janssen, Frans J M Trijbels, Rob C A Sengers, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Inherited Metabolic Disease
|
June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
European Journal of Pediatrics
|
September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
Maaike C de Vries, Richard J Rodenburg, Eva Morava, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Journal of Translational Medicine
|
February 21, 2026
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
October 12, 2012
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
Maria Zulfiqar, Doris D M Lin, Marinette Van der Graaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Human Mutation
|
February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
Nicole Monnier, Isabelle Marty, Julien Faure, et al.
Page
of 36
Search research articles
Search
Showing results (261-270 of 355) with videos related to
Sort By:
Page
of 36
Clinical Chemistry
|
March 18, 2006
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology
Antoon J M Janssen, Frans J M Trijbels, Rob C A Sengers, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Inherited Metabolic Disease
|
June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
European Journal of Pediatrics
|
September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
Maaike C de Vries, Richard J Rodenburg, Eva Morava, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Journal of Translational Medicine
|
February 21, 2026
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
October 12, 2012
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
Maria Zulfiqar, Doris D M Lin, Marinette Van der Graaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Human Mutation
|
February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
Nicole Monnier, Isabelle Marty, Julien Faure, et al.
Page
of 36