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Ana Gaspar

Showing results (41-50 of 54) with videos related to

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Gene|June 26, 2016
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cellsAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.
G3 (Bethesda, Md.)|June 30, 2025
The genetic basis of chloride exclusion in grapevinesSadikshya Sharma, Noe Cochetel, Jose R Munoz, et al.
Gene|June 25, 2013
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patientsFilipa Ferreira, Sofia Esteves, Lígia S Almeida, et al.
Servir (Lisbon, Portugal)|April 14, 2006
[Self-esteem in formal care providers and quality of life indexes in users of support facilities for the institutionalized elderly, in Portalegre]Ana Graça, Ana Melo, Ana Gaspar, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|May 3, 2025
Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomicsInês M S Guerra, Hugo Rocha, Sónia Moreira, et al.
Communications Biology|October 8, 2025
Caspofungin binding to iron compromises its antifungal efficacy against Candida albicansAndreia Pedras, Cláudia Malta-Luís, Luís M P Lima, et al.
Molecular Genetics and Metabolism|April 2, 2008
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy communitySofia Quental, Sandra Macedo-Ribeiro, Raquel Matos, et al.
Mitochondrion|March 5, 2019
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunctionCélia Nogueira, Lisbeth Silva, Cristina Pereira, et al.
Biomedicines|June 28, 2023
Leukocyte Imbalances in Mucopolysaccharidoses PatientsNuno Lopes, Maria L Maia, Cátia S Pereira, et al.
Journal of Inherited Metabolic Disease|June 11, 2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in PortugalAna I Coelho, Ruben Ramos, Ana Gaspar, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Gene|June 26, 2016
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cellsAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.
G3 (Bethesda, Md.)|June 30, 2025
The genetic basis of chloride exclusion in grapevinesSadikshya Sharma, Noe Cochetel, Jose R Munoz, et al.
Gene|June 25, 2013
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patientsFilipa Ferreira, Sofia Esteves, Lígia S Almeida, et al.
Servir (Lisbon, Portugal)|April 14, 2006
[Self-esteem in formal care providers and quality of life indexes in users of support facilities for the institutionalized elderly, in Portalegre]Ana Graça, Ana Melo, Ana Gaspar, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|May 3, 2025
Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomicsInês M S Guerra, Hugo Rocha, Sónia Moreira, et al.
Communications Biology|October 8, 2025
Caspofungin binding to iron compromises its antifungal efficacy against Candida albicansAndreia Pedras, Cláudia Malta-Luís, Luís M P Lima, et al.
Molecular Genetics and Metabolism|April 2, 2008
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy communitySofia Quental, Sandra Macedo-Ribeiro, Raquel Matos, et al.
Mitochondrion|March 5, 2019
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunctionCélia Nogueira, Lisbeth Silva, Cristina Pereira, et al.
Biomedicines|June 28, 2023
Leukocyte Imbalances in Mucopolysaccharidoses PatientsNuno Lopes, Maria L Maia, Cátia S Pereira, et al.
Journal of Inherited Metabolic Disease|June 11, 2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in PortugalAna I Coelho, Ruben Ramos, Ana Gaspar, et al.
Pageof 6