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P de Lonlay

Showing results (81-90 of 131) with videos related to

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Molecular Genetics and Metabolism|April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiencyV Valayannopoulos, N Boddaert, K Mention, et al.
Journal of Child Neurology|December 17, 2013
Acute psychosis in propionic acidemia: 2 case reportsC Dejean de la Bâtie, V Barbier, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.
The Journal of Clinical Endocrinology and Metabolism|September 18, 2008
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinismL Damaj, M le Lorch, V Verkarre, et al.
Pediatric Research|August 24, 2001
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsP De Lonlay, C Benelli, F Fouque, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
Journal of Inherited Metabolic Disease|May 4, 2005
Dominantly inherited hyperinsulinaemic hypoglycaemiaP de Lonlay, I Giurgea, C Sempoux, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]F Feillet, H Ogier, D Cheillan, et al.
Pageof 14

Showing results (81-90 of 131) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism|April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiencyV Valayannopoulos, N Boddaert, K Mention, et al.
Journal of Child Neurology|December 17, 2013
Acute psychosis in propionic acidemia: 2 case reportsC Dejean de la Bâtie, V Barbier, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.
The Journal of Clinical Endocrinology and Metabolism|September 18, 2008
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinismL Damaj, M le Lorch, V Verkarre, et al.
Pediatric Research|August 24, 2001
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsP De Lonlay, C Benelli, F Fouque, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
Journal of Inherited Metabolic Disease|May 4, 2005
Dominantly inherited hyperinsulinaemic hypoglycaemiaP de Lonlay, I Giurgea, C Sempoux, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]F Feillet, H Ogier, D Cheillan, et al.
Pageof 14