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M Coene

Showing results (41-50 of 72) with videos related to

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NPJ Genomic Medicine|July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genesEmma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Journal of Inherited Metabolic Disease|May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profilesTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
Human Molecular Genetics|June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Analytica Chimica Acta|November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspectiveJonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Journal of Inherited Metabolic Disease|April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolismLaura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.
Journal of Inherited Metabolic Disease|June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot studyBibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.
Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.
Metabolites|September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational PipelineBrechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.
Metabolites|September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated PatientsJorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
NPJ Genomic Medicine|July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genesEmma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Journal of Inherited Metabolic Disease|May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profilesTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
Human Molecular Genetics|June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Analytica Chimica Acta|November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspectiveJonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Journal of Inherited Metabolic Disease|April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolismLaura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.
Journal of Inherited Metabolic Disease|June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot studyBibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.
Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.
Metabolites|September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational PipelineBrechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.
Metabolites|September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated PatientsJorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.
Pageof 8