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P de Lonlay

Showing results (61-70 of 131) with videos related to

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Hormone Research|July 15, 2000
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinismJ C Fournet, C Mayaud, P de Lonlay, et al.
Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
JIMD Reports|November 27, 2015
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein IntoleranceC Nicolas, N Bednarek, V Vuiblet, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Molecular Genetics and Metabolism|October 20, 2007
Development of liver disease despite mannose treatment in two patients with CDG-IbK Mention, F Lacaille, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|February 24, 2000
Practical management of hyperinsulinism in infancyA Aynsley-Green, K Hussain, J Hall, et al.
Pageof 14

Showing results (61-70 of 131) with videos related to

Sort By:
Pageof 14
Hormone Research|July 15, 2000
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinismJ C Fournet, C Mayaud, P de Lonlay, et al.
Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
JIMD Reports|November 27, 2015
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein IntoleranceC Nicolas, N Bednarek, V Vuiblet, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Molecular Genetics and Metabolism|October 20, 2007
Development of liver disease despite mannose treatment in two patients with CDG-IbK Mention, F Lacaille, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|February 24, 2000
Practical management of hyperinsulinism in infancyA Aynsley-Green, K Hussain, J Hall, et al.
Pageof 14