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I Maire

Showing results (61-70 of 121) with videos related to

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Nature Genetics|November 1, 1996
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humansA J Maichele, B Burwinkel, I Maire, et al.
La Revue De Medecine Interne|May 1, 1991
[Mitochondrial cytopathies]B Mousson, I Maire, H Carrier, et al.
Human Genetics|January 1, 1982
Detection of carriers for Duchenne muscular dystrophy. Quality control of creatine kinase assayH Plauchu, C Junien, I Maire, et al.
Annals of Human Genetics|March 30, 2000
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1aN Bruni, F Rajas, S Montano, et al.
Archives Francaises De Pediatrie|November 1, 1978
[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]P Guibaud, I Maire, M T Vanier, et al.
European Journal of Pediatrics|September 1, 1986
Salla disease in one non-Finnish patientB Echenne, M Vidal, I Maire, et al.
Clinical Chemistry|May 1, 1988
Urinary alanine aminopeptidase assay improved as result of multivariate response-surface analysisC Flandrois, C Lahet, D Feldmann, et al.
Clinical Chemistry|February 1, 1986
Creatine kinase: reassessment of optimal concentrations for adenosine-5'-diphosphate and magnesiumC Lahet, A Vialle, I Maire, et al.
Presse Medicale (Paris, France : 1983)|November 19, 1988
[Recurrent rhabdomyolysis and deficiency of carnitine palmityl transferase. Evidence of the responsibility of a mutant in 2 brothers]J L Dupond, B Mousson, F Guerber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
McArdle's disease in childhood: report of a new caseA Roubertie, K Patte, F Rivier, et al.
Pageof 13

Showing results (61-70 of 121) with videos related to

Sort By:
Pageof 13
Nature Genetics|November 1, 1996
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humansA J Maichele, B Burwinkel, I Maire, et al.
La Revue De Medecine Interne|May 1, 1991
[Mitochondrial cytopathies]B Mousson, I Maire, H Carrier, et al.
Human Genetics|January 1, 1982
Detection of carriers for Duchenne muscular dystrophy. Quality control of creatine kinase assayH Plauchu, C Junien, I Maire, et al.
Annals of Human Genetics|March 30, 2000
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1aN Bruni, F Rajas, S Montano, et al.
Archives Francaises De Pediatrie|November 1, 1978
[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]P Guibaud, I Maire, M T Vanier, et al.
European Journal of Pediatrics|September 1, 1986
Salla disease in one non-Finnish patientB Echenne, M Vidal, I Maire, et al.
Clinical Chemistry|May 1, 1988
Urinary alanine aminopeptidase assay improved as result of multivariate response-surface analysisC Flandrois, C Lahet, D Feldmann, et al.
Clinical Chemistry|February 1, 1986
Creatine kinase: reassessment of optimal concentrations for adenosine-5'-diphosphate and magnesiumC Lahet, A Vialle, I Maire, et al.
Presse Medicale (Paris, France : 1983)|November 19, 1988
[Recurrent rhabdomyolysis and deficiency of carnitine palmityl transferase. Evidence of the responsibility of a mutant in 2 brothers]J L Dupond, B Mousson, F Guerber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
McArdle's disease in childhood: report of a new caseA Roubertie, K Patte, F Rivier, et al.
Pageof 13