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L Vilarinho

Showing results (31-40 of 42) with videos related to

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Annals of Human Genetics|October 19, 2006
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)L Azevedo, P A Soares, R Quental, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.
Molecular Genetics and Metabolism|April 18, 2000
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patientsI Rivera, A Cabral, M Almeida, et al.
Clinical Genetics|July 9, 2013
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalF V Ventura, P Leandro, A Luz, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Clinical Genetics|March 19, 2010
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiencyR Urreizti, A A Moya-García, A Pino-Ángeles, et al.
Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.
Neurology|September 29, 2004
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)C Bruno, O P van Diggelen, D Cassandrini, et al.
Frontiers in Cell and Developmental Biology|March 11, 2024
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort studyC Nogueira, C Pereira, L Silva, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Annals of Human Genetics|October 19, 2006
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)L Azevedo, P A Soares, R Quental, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.
Molecular Genetics and Metabolism|April 18, 2000
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patientsI Rivera, A Cabral, M Almeida, et al.
Clinical Genetics|July 9, 2013
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalF V Ventura, P Leandro, A Luz, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Clinical Genetics|March 19, 2010
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiencyR Urreizti, A A Moya-García, A Pino-Ángeles, et al.
Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.
Neurology|September 29, 2004
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)C Bruno, O P van Diggelen, D Cassandrini, et al.
Frontiers in Cell and Developmental Biology|March 11, 2024
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort studyC Nogueira, C Pereira, L Silva, et al.
Pageof 5