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A Wevers

Showing results (161-170 of 543) with videos related to

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Human Molecular Genetics|March 1, 1994
Six novel mutations in the alpha-galactosidase A gene in families with Fabry diseaseJ K Ploos van Amstel, R P Jansen, J G de Jong, et al.
Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiencyR A Wevers, P J Poels, E M Joosten, et al.
Amino Acids|July 13, 2016
Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility studyBarbara H Janssen, Saskia Lassche, Maria T Hopman, et al.
European Journal of Ophthalmology|February 24, 2006
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndromeE Morava, M A Willemsen, S Wopereis, et al.
Neuropediatrics|May 25, 2012
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhoodGwendolyn Gramer, Nicole I Wolf, Daniel Vater, et al.
Plos One|May 11, 2018
The 1H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention studyCindy Irwin, Mari van Reenen, Shayne Mason, et al.
European Journal of Pediatrics|January 18, 2006
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycansZiad Albahri, Eliska Marklová, Petr Dedek, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detectionR J Wanders, G J Romeijn, F Wijburg, et al.
Pageof 55

Showing results (161-170 of 543) with videos related to

Sort By:
Pageof 55
Human Molecular Genetics|March 1, 1994
Six novel mutations in the alpha-galactosidase A gene in families with Fabry diseaseJ K Ploos van Amstel, R P Jansen, J G de Jong, et al.
Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiencyR A Wevers, P J Poels, E M Joosten, et al.
Amino Acids|July 13, 2016
Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility studyBarbara H Janssen, Saskia Lassche, Maria T Hopman, et al.
European Journal of Ophthalmology|February 24, 2006
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndromeE Morava, M A Willemsen, S Wopereis, et al.
Neuropediatrics|May 25, 2012
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhoodGwendolyn Gramer, Nicole I Wolf, Daniel Vater, et al.
Plos One|May 11, 2018
The 1H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention studyCindy Irwin, Mari van Reenen, Shayne Mason, et al.
European Journal of Pediatrics|January 18, 2006
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycansZiad Albahri, Eliska Marklová, Petr Dedek, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detectionR J Wanders, G J Romeijn, F Wijburg, et al.
Pageof 55