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Molecular Genetics and Metabolism
|
August 17, 2004
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
M L Cardoso, M R Rodrigues, E Leão, et al.
Developmental Medicine and Child Neurology
|
March 3, 2005
Mitochondrial dysfunction in autism spectrum disorders: a population-based study
G Oliveira, L Diogo, M Grazina, et al.
Revista Do Instituto De Medicina Tropical De Sao Paulo
|
November 7, 2001
Experimental infection and horizontal transmission of Bartonella henselae in domestic cats
M de Souza Zanutto, E M Mamizuka, R Raiz, et al.
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.
Journal of Clinical Immunology
|
July 1, 1997
Brazilian report on primary immunodeficiencies in children: 166 cases studied over a follow-up time of 15 years
A S Grumach, A J Duarte, R Bellinati-Pires, et al.
Clinical Genetics
|
July 9, 2013
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
F V Ventura, P Leandro, A Luz, et al.
Human Mutation
|
September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin
L Vilarinho, M L Cardoso, P Gaspar, et al.
Communications Biology
|
August 24, 2023
The ABL-MYC axis controls WIPI1-enhanced autophagy in lifespan extension
Katharina Sporbeck, Maximilian L Haas, Carmen J Pastor-Maldonado, 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 study
C Nogueira, C Pereira, L Silva, et al.
Journal of Medical Genetics
|
May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
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Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
Molecular Genetics and Metabolism
|
August 17, 2004
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
M L Cardoso, M R Rodrigues, E Leão, et al.
Developmental Medicine and Child Neurology
|
March 3, 2005
Mitochondrial dysfunction in autism spectrum disorders: a population-based study
G Oliveira, L Diogo, M Grazina, et al.
Revista Do Instituto De Medicina Tropical De Sao Paulo
|
November 7, 2001
Experimental infection and horizontal transmission of Bartonella henselae in domestic cats
M de Souza Zanutto, E M Mamizuka, R Raiz, et al.
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.
Journal of Clinical Immunology
|
July 1, 1997
Brazilian report on primary immunodeficiencies in children: 166 cases studied over a follow-up time of 15 years
A S Grumach, A J Duarte, R Bellinati-Pires, et al.
Clinical Genetics
|
July 9, 2013
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
F V Ventura, P Leandro, A Luz, et al.
Human Mutation
|
September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin
L Vilarinho, M L Cardoso, P Gaspar, et al.
Communications Biology
|
August 24, 2023
The ABL-MYC axis controls WIPI1-enhanced autophagy in lifespan extension
Katharina Sporbeck, Maximilian L Haas, Carmen J Pastor-Maldonado, 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 study
C Nogueira, C Pereira, L Silva, et al.
Journal of Medical Genetics
|
May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
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of 2