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Showing results (421-430 of 483) with videos related to

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Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Analytical Chemistry|November 10, 2021
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent EpilepsyRianne E van Outersterp, Udo F H Engelke, Jona Merx, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Analytical Chemistry|June 16, 2025
Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion SpectroscopyJelle L Schuurman, Lara van Tetering, Kas J Houthuijs, et al.
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|June 14, 2014
Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paragangliomaAnouk van Berkel, Jyotsna U Rao, Benno Kusters, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 13, 2021
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia TelangiectasiaStefanie J G Veenhuis, Nienke J H van Os, Anjo J W M Janssen, et al.
American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Analytical Chemistry|June 21, 2023
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of MetabolismRianne E van Outersterp, Pieter C Kooijman, Jona Merx, et al.
Pageof 49

Showing results (421-430 of 483) with videos related to

Sort By:
Pageof 49
Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Analytical Chemistry|November 10, 2021
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent EpilepsyRianne E van Outersterp, Udo F H Engelke, Jona Merx, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Analytical Chemistry|June 16, 2025
Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion SpectroscopyJelle L Schuurman, Lara van Tetering, Kas J Houthuijs, et al.
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|June 14, 2014
Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paragangliomaAnouk van Berkel, Jyotsna U Rao, Benno Kusters, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 13, 2021
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia TelangiectasiaStefanie J G Veenhuis, Nienke J H van Os, Anjo J W M Janssen, et al.
American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Analytical Chemistry|June 21, 2023
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of MetabolismRianne E van Outersterp, Pieter C Kooijman, Jona Merx, et al.
Pageof 49