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Maaike C de Vries

Showing results (41-50 of 52) with videos related to

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Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Molecular Genetics and Metabolism|December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiographyAnnemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|September 8, 2017
Environmental surveillance during an outbreak of tularaemia in hares, the Netherlands, 2015Ingmar Janse, Miriam Maas, Jolianne M Rijks, et al.
Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
Genetics in Medicine Open|March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphismYoun Hee Jee, Julian C Lui, Dana Marafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Molecular Genetics and Metabolism|December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiographyAnnemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|September 8, 2017
Environmental surveillance during an outbreak of tularaemia in hares, the Netherlands, 2015Ingmar Janse, Miriam Maas, Jolianne M Rijks, et al.
Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
Genetics in Medicine Open|March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphismYoun Hee Jee, Julian C Lui, Dana Marafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.
Pageof 6