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Ron A Wevers

Showing results (121-130 of 266) with videos related to

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American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
The Journal of Clinical Endocrinology and Metabolism|December 9, 2014
Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell featuresEvelien E J W Smeets, Paul N Span, Antonius E van Herwaarden, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
Plos Genetics|July 9, 2020
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATPFlora Szeri, Stefan Lundkvist, Sylvia Donnelly, et al.
Journal of Inherited Metabolic Disease|February 14, 2018
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolismIrene M L W Körver-Keularts, Ping Wang, Huub W A H Waterval, et al.
Pediatric Research|June 27, 2002
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recoveryAnne-Marie Van Cappellen Van Walsum, Henk W Jongsma, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature reviewEmma Graham, Jessica Lee, Magda Price, et al.
Journal of the American Chemical Society|September 11, 2025
Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic CompositionThom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, et al.
Cellular and Molecular Life Sciences : CMLS|May 20, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial roleGiovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, et al.
Pageof 27

Showing results (121-130 of 266) with videos related to

Sort By:
Pageof 27
American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
The Journal of Clinical Endocrinology and Metabolism|December 9, 2014
Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell featuresEvelien E J W Smeets, Paul N Span, Antonius E van Herwaarden, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
Plos Genetics|July 9, 2020
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATPFlora Szeri, Stefan Lundkvist, Sylvia Donnelly, et al.
Journal of Inherited Metabolic Disease|February 14, 2018
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolismIrene M L W Körver-Keularts, Ping Wang, Huub W A H Waterval, et al.
Pediatric Research|June 27, 2002
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recoveryAnne-Marie Van Cappellen Van Walsum, Henk W Jongsma, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature reviewEmma Graham, Jessica Lee, Magda Price, et al.
Journal of the American Chemical Society|September 11, 2025
Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic CompositionThom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, et al.
Cellular and Molecular Life Sciences : CMLS|May 20, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial roleGiovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, et al.
Pageof 27