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Showing results (81-90 of 89) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1994
Maple syrup urine disease (MSUD): screening for known mutations in Italian patientsT Parrella, S Surrey, A Iolascon, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactinM Spada, S Ferraris, G B Ferrero, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Genotype-phenotype correlation in dihydropteridine reductase deficiencyL de Sanctis, C Alliaudi, M Spada, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
American Journal of Human Genetics|March 1, 1997
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1L Bisceglia, M J Calonge, A Totaro, et al.
Clinical Genetics|January 12, 2010
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiencyV Leuzzi, C A Carducci, C L Carducci, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Human Mutation|September 23, 1998
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani, L de Sanctis, P M Smooker, et al.
Nature Genetics|September 2, 1999
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATL Feliubadaló, M Font, J Purroy, et al.
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Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
Journal of Inherited Metabolic Disease|January 1, 1994
Maple syrup urine disease (MSUD): screening for known mutations in Italian patientsT Parrella, S Surrey, A Iolascon, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactinM Spada, S Ferraris, G B Ferrero, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Genotype-phenotype correlation in dihydropteridine reductase deficiencyL de Sanctis, C Alliaudi, M Spada, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
American Journal of Human Genetics|March 1, 1997
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1L Bisceglia, M J Calonge, A Totaro, et al.
Clinical Genetics|January 12, 2010
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiencyV Leuzzi, C A Carducci, C L Carducci, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Human Mutation|September 23, 1998
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani, L de Sanctis, P M Smooker, et al.
Nature Genetics|September 2, 1999
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATL Feliubadaló, M Font, J Purroy, et al.
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