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F G Debray

Showing results (11-20 of 15) with videos related to

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Scientific Reports|December 17, 2017
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseasesF Boemer, C Fasquelle, S d'Otreppe, et al.
Journal of Medical Genetics|November 4, 2008
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15F-G Debray, M Lambert, B Lemieux, et al.
Clinical Genetics|April 2, 2015
Diagnostic pitfall in antenatal manifestations of CPT II deficiencyF Boemer, M Deberg, R Schoos, et al.
Cell Transplantation|August 15, 2012
Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuriaX Stéphenne, F G Debray, F Smets, et al.
Neurology|July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defectsF-G Debray, Y Boulanger, A Khiat, et al.
Pageof 2

Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Scientific Reports|December 17, 2017
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseasesF Boemer, C Fasquelle, S d'Otreppe, et al.
Journal of Medical Genetics|November 4, 2008
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15F-G Debray, M Lambert, B Lemieux, et al.
Clinical Genetics|April 2, 2015
Diagnostic pitfall in antenatal manifestations of CPT II deficiencyF Boemer, M Deberg, R Schoos, et al.
Cell Transplantation|August 15, 2012
Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuriaX Stéphenne, F G Debray, F Smets, et al.
Neurology|July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defectsF-G Debray, Y Boulanger, A Khiat, et al.
Pageof 2