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Acta Neuropathologica Communications
|
November 21, 2013
Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG
Anna C Navis, Simone P Niclou, Fred Fack, et al.
Brain : a Journal of Neurology
|
February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Communications Biology
|
September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
Jona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
American Journal of Human Genetics
|
June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
David Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Brain : a Journal of Neurology
|
December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathy
Johannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Brain : a Journal of Neurology
|
February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Scientific Reports
|
July 28, 2016
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma
Sanne A M van Lith, Anna C Navis, Krissie Lenting, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 1, 2013
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma
Jyotsna U Rao, Udo F H Engelke, Richard J T Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Page
of 27
Search research articles
Search
Showing results (191-200 of 266) with videos related to
Sort By:
Page
of 27
Acta Neuropathologica Communications
|
November 21, 2013
Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG
Anna C Navis, Simone P Niclou, Fred Fack, et al.
Brain : a Journal of Neurology
|
February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Communications Biology
|
September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
Jona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
American Journal of Human Genetics
|
June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
David Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Brain : a Journal of Neurology
|
December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathy
Johannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Brain : a Journal of Neurology
|
February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Scientific Reports
|
July 28, 2016
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma
Sanne A M van Lith, Anna C Navis, Krissie Lenting, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 1, 2013
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma
Jyotsna U Rao, Udo F H Engelke, Richard J T Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Page
of 27