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Ron A Wevers

Showing results (151-160 of 266) with videos related to

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American Journal of Medical Genetics. Part A|April 11, 2003
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeJohan L K Van Hove, Ron A Wevers, Johan Van Cleemput, et al.
European Journal of Human Genetics : EJHG|February 28, 2008
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?Marian A Kroos, Reinier A Mullaart, Laura Van Vliet, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Molecular & Cellular Proteomics : MCP|July 23, 2005
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometryMurtada H Farhoud, Hans J C T Wessels, Peter J M Steenbakkers, et al.
Molecular Genetics and Metabolism|September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencySamira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
JIMD Reports|March 17, 2021
Monoamine oxidase A activity in fibroblasts as a functional confirmation of <i>MAOA</i> variantsTessa M A Peters, Irma Lammerts van Bueren, Ben P B H Geurtz, et al.
Clinical Chemistry|April 30, 2002
Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalitiesFemke de Loos, Karin M L C Huijben, Nicole C A J van der Kar, et al.
Biochimica Et Biophysica Acta|June 14, 2006
Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan Wopereis, Umi M Abd Hamid, Alison Critchley, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|January 5, 2024
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomicsFrédéric M Vaz, Pippa Staps, Jan Bert van Klinken, et al.
Pageof 27

Showing results (151-160 of 266) with videos related to

Sort By:
Pageof 27
American Journal of Medical Genetics. Part A|April 11, 2003
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeJohan L K Van Hove, Ron A Wevers, Johan Van Cleemput, et al.
European Journal of Human Genetics : EJHG|February 28, 2008
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?Marian A Kroos, Reinier A Mullaart, Laura Van Vliet, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Molecular & Cellular Proteomics : MCP|July 23, 2005
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometryMurtada H Farhoud, Hans J C T Wessels, Peter J M Steenbakkers, et al.
Molecular Genetics and Metabolism|September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencySamira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
JIMD Reports|March 17, 2021
Monoamine oxidase A activity in fibroblasts as a functional confirmation of <i>MAOA</i> variantsTessa M A Peters, Irma Lammerts van Bueren, Ben P B H Geurtz, et al.
Clinical Chemistry|April 30, 2002
Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalitiesFemke de Loos, Karin M L C Huijben, Nicole C A J van der Kar, et al.
Biochimica Et Biophysica Acta|June 14, 2006
Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan Wopereis, Umi M Abd Hamid, Alison Critchley, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|January 5, 2024
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomicsFrédéric M Vaz, Pippa Staps, Jan Bert van Klinken, et al.
Pageof 27