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A Ponzone

Showing results (71-80 of 89) with videos related to

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Human Mutation|January 1, 1995
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activityI Dianzani, P M Knappskog, L de Sanctis, et al.
Clinical Nephrology|January 5, 2002
Cystinuria phenotyping by oral lysine and arginine loadingL de Sanctis, G Bonetti, M Bruno, et al.
Journal of Inherited Metabolic Disease|January 1, 1989
RFLPs of the phenylalanine hydroxylase gene in the Italian populationI Dianzani, L Farinasso, P Fortina, et al.
Helvetica Paediatrica Acta|December 1, 1985
Bethanechol versus antiacids in the treatment of gastroesophageal refluxP Levi, F Marmo, C Saluzzo, et al.
Human Heredity|October 6, 2001
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypesS Giannattasio, I Dianzani, P Lattanzio, et al.
The Journal of Pediatrics|December 1, 1984
DHPR deficiency in ItalyA Ponzone, V Ricca, S Ferraris, 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 Heredity|November 1, 1993
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern EuropeN Gregersen, V Winter, D Curtis, et al.
American Journal of Human Genetics|October 1, 1995
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneityP Gasparini, M J Calonge, L Bisceglia, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 1, 1996
Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndromeS Ferraris, M Mostert, I Rabbone, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
Human Mutation|January 1, 1995
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activityI Dianzani, P M Knappskog, L de Sanctis, et al.
Clinical Nephrology|January 5, 2002
Cystinuria phenotyping by oral lysine and arginine loadingL de Sanctis, G Bonetti, M Bruno, et al.
Journal of Inherited Metabolic Disease|January 1, 1989
RFLPs of the phenylalanine hydroxylase gene in the Italian populationI Dianzani, L Farinasso, P Fortina, et al.
Helvetica Paediatrica Acta|December 1, 1985
Bethanechol versus antiacids in the treatment of gastroesophageal refluxP Levi, F Marmo, C Saluzzo, et al.
Human Heredity|October 6, 2001
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypesS Giannattasio, I Dianzani, P Lattanzio, et al.
The Journal of Pediatrics|December 1, 1984
DHPR deficiency in ItalyA Ponzone, V Ricca, S Ferraris, 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 Heredity|November 1, 1993
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern EuropeN Gregersen, V Winter, D Curtis, et al.
American Journal of Human Genetics|October 1, 1995
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneityP Gasparini, M J Calonge, L Bisceglia, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 1, 1996
Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndromeS Ferraris, M Mostert, I Rabbone, et al.
Pageof 9