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M Coene

Showing results (61-70 of 72) with videos related to

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American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, 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.
Journal of Inherited Metabolic Disease|September 11, 2022
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficitTessa M A Peters, Jona Merx, Pieter C Kooijman, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Sensors (Basel, Switzerland)|February 7, 2018
Foil Strain Gauges Using Piezoresistive Carbon Nanotube Yarn: Fabrication and CalibrationJandro L Abot, Mário R Góngora-Rubio, Jude C Anike, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, 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.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, 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.
Journal of Inherited Metabolic Disease|September 11, 2022
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficitTessa M A Peters, Jona Merx, Pieter C Kooijman, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Sensors (Basel, Switzerland)|February 7, 2018
Foil Strain Gauges Using Piezoresistive Carbon Nanotube Yarn: Fabrication and CalibrationJandro L Abot, Mário R Góngora-Rubio, Jude C Anike, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, 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.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 8