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J F Benoist

Showing results (21-30 of 32) with videos related to

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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.
Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
Journal of Inherited Metabolic Disease|March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos, L Hubert, J F Benoist, et al.
Molecular Genetics and Metabolism|April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson, J F Benoist, G Touati, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
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.
Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
Journal of Inherited Metabolic Disease|March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos, L Hubert, J F Benoist, et al.
Molecular Genetics and Metabolism|April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson, J F Benoist, G Touati, et al.
Pageof 4