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Neurology|August 25, 2004
Progression despite replacement of a myopathic form of coenzyme Q10 defectK Auré, J F Benoist, H Ogier de Baulny, et al.Clinical Genetics|June 25, 2017
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colonI Tostivint, N Royer, M Nicolas, et al.Journal of Inherited Metabolic Disease|April 22, 2009
Early-onset hyperargininaemia: a severe disorder?M Schiff, J-F Benoist, M L Cardoso, et al.Journal of Inherited Metabolic Disease|December 20, 2012
Maternal and fetal tyrosinemia type IN Garcia Segarra, S Roche, A Imbard, et al.Neurology|January 24, 2007
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1I Le Ber, O Dubourg, J-F Benoist, et al.Molecular Genetics and Metabolism|February 13, 2001
Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiencyJ F Benoist, C Acquaviva, I Callebaut, et al.European Journal of Human Genetics : EJHG|August 31, 2001
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patientsC Acquaviva, J F Benoist, I Callebaut, et al.European Journal of Medical Genetics|January 18, 2015
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorderM Gérard, G Morin, A Bourillon, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 30, 2017
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian childT Ben Younes, I Kraoua, H Benrhouma, et al.Journal of Neurology|February 13, 2007
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological featuresW M M Schüpbach, K Madhavi Vadday, A Schaller, et al.Pageof 3