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L Vilarinho

Showing results (11-20 of 42) with videos related to

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JIMD Reports|February 23, 2013
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsE Martins, A Marcão, A Bandeira, et al.
Pediatric Neurology|February 11, 2000
Clinical and molecular studies in three Portuguese mtDNA T8993G familiesL Vilarinho, E Leão, C Barbot, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Maternally inherited deafness associated with a T1095C mutation in the mDNAA Tessa, A Giannotti, L Tieri, et al.
Journal of Medical Screening|June 3, 2016
Molecular picture of cobalamin C/D defects before and after newborn screening eraC Nogueira, A Marcão, H Rocha, et al.
European Neurology|May 30, 1998
Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patientsL Vilarinho, F M Santorelli, M L Cardoso, et al.
JIMD Reports|April 6, 2013
Liver transplantation prevents progressive neurological impairment in argininemiaE Santos Silva, M L Cardoso, L Vilarinho, et al.
Journal of Medical Genetics|July 1, 1997
The mitochondrial A3243G mutation presenting as severe cardiomyopathyL Vilarinho, F M Santorelli, M J Rosas, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 10, 2002
Prolidase deficiency with hyperimmunoglobulin E: a case reportI Lopes, L Marques, E Neves, et al.
Biochemical and Biophysical Research Communications|September 23, 1997
Identification of a novel mutation in the mtDNA ND5 gene associated with MELASF M Santorelli, K Tanji, R Kulikova, et al.
Journal of Proteomics|May 21, 2011
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiencyH Rocha, R Ferreira, J Carvalho, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
JIMD Reports|February 23, 2013
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsE Martins, A Marcão, A Bandeira, et al.
Pediatric Neurology|February 11, 2000
Clinical and molecular studies in three Portuguese mtDNA T8993G familiesL Vilarinho, E Leão, C Barbot, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Maternally inherited deafness associated with a T1095C mutation in the mDNAA Tessa, A Giannotti, L Tieri, et al.
Journal of Medical Screening|June 3, 2016
Molecular picture of cobalamin C/D defects before and after newborn screening eraC Nogueira, A Marcão, H Rocha, et al.
European Neurology|May 30, 1998
Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patientsL Vilarinho, F M Santorelli, M L Cardoso, et al.
JIMD Reports|April 6, 2013
Liver transplantation prevents progressive neurological impairment in argininemiaE Santos Silva, M L Cardoso, L Vilarinho, et al.
Journal of Medical Genetics|July 1, 1997
The mitochondrial A3243G mutation presenting as severe cardiomyopathyL Vilarinho, F M Santorelli, M J Rosas, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 10, 2002
Prolidase deficiency with hyperimmunoglobulin E: a case reportI Lopes, L Marques, E Neves, et al.
Biochemical and Biophysical Research Communications|September 23, 1997
Identification of a novel mutation in the mtDNA ND5 gene associated with MELASF M Santorelli, K Tanji, R Kulikova, et al.
Journal of Proteomics|May 21, 2011
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiencyH Rocha, R Ferreira, J Carvalho, et al.
Pageof 5