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Showing results (381-390 of 483) with videos related to

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Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.
Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
NMR in Biomedicine|February 27, 2010
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunctionRaffaella Zannolli, Sabrina Buoni, Maria Tassini, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional studyFlorian Barthélémy, Claire Navarro, Racha Fayek, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Biochemical and Biophysical Research Communications|November 9, 2005
Aminoacylase I deficiency: a novel inborn error of metabolismR N Van Coster, E A Gerlo, T G Giardina, et al.
Blood|July 3, 2014
Characterization of acute myeloid leukemia based on levels of global hydroxymethylationLeonie I Kroeze, Mariam G Aslanyan, Arno van Rooij, et al.
The Journal of Clinical Endocrinology and Metabolism|December 3, 2014
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomicsJ U Rao, U F H Engelke, F C G J Sweep, et al.
Pageof 49

Showing results (381-390 of 483) with videos related to

Sort By:
Pageof 49
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.
Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.
NMR in Biomedicine|February 27, 2010
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunctionRaffaella Zannolli, Sabrina Buoni, Maria Tassini, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional studyFlorian Barthélémy, Claire Navarro, Racha Fayek, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Biochemical and Biophysical Research Communications|November 9, 2005
Aminoacylase I deficiency: a novel inborn error of metabolismR N Van Coster, E A Gerlo, T G Giardina, et al.
Blood|July 3, 2014
Characterization of acute myeloid leukemia based on levels of global hydroxymethylationLeonie I Kroeze, Mariam G Aslanyan, Arno van Rooij, et al.
The Journal of Clinical Endocrinology and Metabolism|December 3, 2014
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomicsJ U Rao, U F H Engelke, F C G J Sweep, et al.
Pageof 49