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D Rabier

Showing results (101-110 of 157) with videos related to

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Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
Prenatal Diagnosis|July 1, 1996
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathiesD Rabier, B Chadefaux-Vekemans, J F Oury, et al.
The Journal of Pediatrics|August 1, 1994
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge testsM Spada, O Guardamagna, D Rabier, et al.
Human Mutation|January 1, 1996
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemiaB Gilbert-Dussardier, B Segues, J M Rozet, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhageM Candito, C Richelme, P Parvy, et al.
Human Mutation|January 1, 1996
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic comaB Ségues, P S Veber, D Rabier, et al.
Human Genetics|January 1, 1990
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiencyA Pelet, A Rotig, C Bonaïti-Pellié, et al.
AJNR. American Journal of Neuroradiology|February 18, 2006
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndromeF Mochel, A-G Grébille, A Benachi, et al.
Transplantation Proceedings|April 1, 1995
Liver transplantation in children with inherited metabolic disordersD Jan, J Laurent, F Lacaille, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 1, 1994
[Sulfite oxidase deficiency presenting as Leigh syndrome]J Amiel, V Gagey, D Rabier, et al.
Pageof 16

Showing results (101-110 of 157) with videos related to

Sort By:
Pageof 16
Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
Prenatal Diagnosis|July 1, 1996
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathiesD Rabier, B Chadefaux-Vekemans, J F Oury, et al.
The Journal of Pediatrics|August 1, 1994
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge testsM Spada, O Guardamagna, D Rabier, et al.
Human Mutation|January 1, 1996
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemiaB Gilbert-Dussardier, B Segues, J M Rozet, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhageM Candito, C Richelme, P Parvy, et al.
Human Mutation|January 1, 1996
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic comaB Ségues, P S Veber, D Rabier, et al.
Human Genetics|January 1, 1990
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiencyA Pelet, A Rotig, C Bonaïti-Pellié, et al.
AJNR. American Journal of Neuroradiology|February 18, 2006
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndromeF Mochel, A-G Grébille, A Benachi, et al.
Transplantation Proceedings|April 1, 1995
Liver transplantation in children with inherited metabolic disordersD Jan, J Laurent, F Lacaille, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 1, 1994
[Sulfite oxidase deficiency presenting as Leigh syndrome]J Amiel, V Gagey, D Rabier, et al.
Pageof 16