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Debray, Francois-Guillaume
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1

Impact of newborn screening for fatty acid oxidation disord..:

Everard, Emilie ; Laeremans, Hilde ; Boemer, François...
European Journal of Paediatric Neurology.  49 (2024)  - p. 60-65 , 2024
Link: https://doi.org/10.1016/..
 
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2

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:

Lumaka, Aimé ; Fasquelle, Corinne ; Debray, Francois-Guillaume...
International Journal of Molecular Sciences.  24 (2023)  4 - p. 4003 , 2023
Link: https://doi.org/10.3390/..
 
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4

Novel Loss of Function Variant in BCKDK Causes a Treatable ..:

Boemer, François ; Josse, Claire ; Luis, Géraldine...
International Journal of Molecular Sciences.  23 (2022)  4 - p. 2253 , 2022
Link: https://doi.org/10.3390/..
 
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5

Effect of a high fructose diet on metabolic parameters in c..:

Debray, François-Guillaume ; Seyssel, Kevin ; Fadeur, Marjorie...
Clinical Nutrition.  40 (2021)  6 - p. 4246-4254 , 2021
Link: https://doi.org/10.1016/..
 
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6

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) tre..:

van Rijt, Willemijn J. ; Jager, Emmalie A. ; Allersma, Derk P....
Genetics in Medicine.  22 (2020)  5 - p. 908-916 , 2020
Link: https://doi.org/10.1038/..
 
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7

Kidney and vascular function in adult patients with heredit..:

Simons, Nynke ; Debray, François-Guillaume ; Schaper, Nicolaas C....
Molecular Genetics and Metabolism Reports.  23 (2020)  - p. 100600 , 2020
Link: https://doi.org/10.1016/..
 
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8

Developmental trajectories of neuroanatomical alterations a..:

Cárdenas-de-la-Parra, Alonso ; Martin-Brevet, Sandra ; Moreau, Clara...
NeuroImage.  203 (2019)  - p. 116155 , 2019
Link: https://doi.org/10.1016/..
 
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9

Patients With Aldolase B Deficiency Are Characterized by In..:

Simons, Nynke ; Debray, François-Guillaume ; Schaper, Nicolaas C...
The Journal of Clinical Endocrinology & Metabolism.  104 (2019)  11 - p. 5056-5064 , 2019
Link: https://doi.org/10.1210/..
 
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10

Are heterozygous carriers for hereditary fructose intoleran..:

Debray, François-Guillaume ; Damjanovic, Katarina ; Rosset, Robin...
The American Journal of Clinical Nutrition.  108 (2018)  2 - p. 292-299 , 2018
Link: https://doi.org/10.1093/..
 
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11

HUWE1 variants cause dominant X-linked intellectual disabil..:

Moortgat, Stéphanie ; Berland, Siren ; Aukrust, Ingvild...
European Journal of Human Genetics.  26 (2017)  1 - p. 64-74 , 2017
Link: https://doi.org/10.1038/..
 
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12

Erratum: Corrigendum: Mutations in the voltage-gated potass..:

Simons, Cas ; Rash, Lachlan D ; Crawford, Joanna...
Nature Genetics.  47 (2015)  3 - p. 304-304 , 2015
Link: https://doi.org/10.1038/..
 
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13

Clinical variability in neurohepatic syndrome due to combin..:

Harvengt, Julie ; Wanty, Catherine ; De Paepe, Boel...
Molecular Genetics and Metabolism Reports.  1 (2014)  - p. 223-231 , 2014
Link: https://doi.org/10.1016/..
 
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14

Neonatal progeroid variant of Marfan syndrome with congenit..:

Jacquinet, Adeline ; Verloes, Alain ; Callewaert, Bert...
European Journal of Medical Genetics.  57 (2014)  5 - p. 230-234 , 2014
Link: https://doi.org/10.1016/..
 
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15

Mutations in the voltage-gated potassium channel gene KCNH1..:

Simons, Cas ; Rash, Lachlan D ; Crawford, Joanna...
Nature Genetics.  47 (2014)  1 - p. 73-77 , 2014
Link: https://doi.org/10.1038/..
 
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