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David Cheillan

Showing results (61-70 of 74) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
JCI Insight|April 15, 2021
Milk polar lipids favorably alter circulating and intestinal ceramide and sphingomyelin species in postmenopausal womenMélanie Le Barz, Cécile Vors, Emmanuel Combe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
Heart Rhythm|November 16, 2025
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variantsAntoine Delinière, Chloé Mulatier, David Cheillan, et al.
Gut|June 14, 2019
Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplayCécile Vors, Laurie Joumard-Cubizolles, Manon Lecomte, et al.
Orphanet Journal of Rare Diseases|December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsDavid Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
Molecular Genetics and Metabolism|October 5, 2013
Creatine and guanidinoacetate reference values in a French populationMarie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
International Journal of Neonatal Screening|April 3, 2021
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010J Gerard Loeber, Dimitris Platis, Rolf H Zetterström, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
JCI Insight|April 15, 2021
Milk polar lipids favorably alter circulating and intestinal ceramide and sphingomyelin species in postmenopausal womenMélanie Le Barz, Cécile Vors, Emmanuel Combe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
Heart Rhythm|November 16, 2025
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variantsAntoine Delinière, Chloé Mulatier, David Cheillan, et al.
Gut|June 14, 2019
Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplayCécile Vors, Laurie Joumard-Cubizolles, Manon Lecomte, et al.
Orphanet Journal of Rare Diseases|December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsDavid Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
Molecular Genetics and Metabolism|October 5, 2013
Creatine and guanidinoacetate reference values in a French populationMarie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
International Journal of Neonatal Screening|April 3, 2021
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010J Gerard Loeber, Dimitris Platis, Rolf H Zetterström, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
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