Works matching AU Azevedo, Luísa
Results: 40
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
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- Human Mutation, 2021, v. 42, n. 8, p. 978, doi. 10.1002/humu.24221
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- Article
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
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- Human Genetics, 2024, v. 143, n. 12, p. 1465, doi. 10.1007/s00439-024-02715-9
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- Article
Compensatory epistasis explored by molecular dynamics simulations.
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- Human Genetics, 2021, v. 140, n. 9, p. 1329, doi. 10.1007/s00439-021-02307-x
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- Article
Functional ecology as a missing link for conservation of a resource-limited flora in the Atlantic forest.
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- Biodiversity & Conservation, 2015, v. 24, n. 9, p. 2239, doi. 10.1007/s10531-015-0904-x
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- Article
Essential genetic findings in neurodevelopmental disorders.
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- Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-019-0216-4
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- Article
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
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- Article
On the rocks: Biogeography and floristic identity of rocky ecosystems in eastern South America.
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- Journal of Systematics & Evolution, 2024, v. 62, n. 2, p. 305, doi. 10.1111/jse.13052
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- Article
Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
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- Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9268
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- Article
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.
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- Diagnostics (2075-4418), 2024, v. 14, n. 19, p. 2133, doi. 10.3390/diagnostics14192133
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- Article
The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis.
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- Cells (2073-4409), 2018, v. 7, n. 2, p. 14, doi. 10.3390/cells7020014
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- Article
Editorial for the Special Issue: Trends in Population Genetics and Identification—Impact on Anthropology.
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- 2024
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- Editorial
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.
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- Genes, 2021, v. 12, n. 11, p. 1827, doi. 10.3390/genes12111827
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- Article
Using drone imagery to upscale estimates of water capacity in tank bromeliads on steep neotropical inselbergs.
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- Austral Ecology, 2022, v. 47, n. 2, p. 196, doi. 10.1111/aec.13113
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- Article
NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.
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- Scientific Reports, 2014, p. 1, doi. 10.1038/srep06311
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- Article
A wide range of South American inselberg floras reveal cohesive biome patterns.
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- Frontiers in Plant Science, 2022, v. 13, p. 01, doi. 10.3389/fpls.2022.928577
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- Article
Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates.
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- BMC Evolutionary Biology, 2010, v. 10, p. 212, doi. 10.1186/1471-2148-10-212
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- Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
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- Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1
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- Article
Correcting the Underestimation of Top Incomes: Combining Data from Income Tax Reports and the Brazilian 2010 Census.
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- Social Indicators Research, 2018, v. 135, n. 1, p. 233, doi. 10.1007/s11205-016-1498-8
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- Article
Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years.
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- Journal of Fungi, 2022, v. 8, n. 8, p. 803, doi. 10.3390/jof8080803
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- Article
Naturally occurring genetic diseases caused by de novo variants in domestic animals.
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- Animal Genetics, 2024, v. 55, n. 3, p. 319, doi. 10.1111/age.13403
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- Article
O PROGRAMA BOLSA FAMÍLIA E O MERCADO DE TRABALHO INFORMAL: UMA ANÁLISE DE IMPACTO DA AÇÃO BRASIL CARINHOSO.
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- Brazilian Journal of Applied Economics / Economía Aplicada, 2016, v. 20, n. 4, p. 459, doi. 10.11606/1413-8050/ea153891
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- Article
Epistatic interactions modulate the evolution of mammalianmitochondrial respiratory complex components.
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- BMC Genomics, 2009, v. 10, p. 266, doi. 10.1186/1471-2164-10-266
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- Article
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00587-8
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- Article
Climate and Environmental Changes and Their Potential Effects on the Dynamics of Chagas Disease: Hybridization in Rhodniini (Hemiptera, Triatominae).
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- Insects (2075-4450), 2023, v. 14, n. 4, p. 378, doi. 10.3390/insects14040378
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- Article
Authentication of plant food products: Under the magnification of Botany Forensics.
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- Nova Acta Científica Compostelana, 2017, n. 24, p. 45
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- Article
First evidence of gonadal hybrid dysgenesis in Chagas disease vectors (Hemiptera, Triatominae): gonad atrophy prevents events of interspecific gene flow and introgression.
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- Parasites & Vectors, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13071-023-06006-6
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- Article
Climatic control of mat vegetation communities on inselberg archipelagos in south-eastern Brazil.
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- Biological Journal of the Linnean Society, 2021, v. 133, n. 2, p. 604, doi. 10.1093/biolinnean/blaa196
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- Article
LOCUS (LOng Covid–Understanding Symptoms, events and use of services in Portugal): A three-component study protocol.
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- PLoS ONE, 2023, v. 18, n. 4, p. 1, doi. 10.1371/journal.pone.0285051
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- Article
Segurança alimentar e nutricional na América do Sul e BRICS: avanços e "nuvens" no horizonte.
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- Economia e Sociedade, 2019, v. 28, n. 3, p. 717, doi. 10.1590/1982-3533.2019v28n3art05
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- Article
How does spatial micro-environmental heterogeneity influence seedling recruitment in ironstone outcrops?
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- Journal of Vegetation Science, 2021, v. 32, n. 2, p. 1, doi. 10.1111/jvs.13010
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- Article
Sugarloaf Land in south-eastern Brazil: a tropical hotspot of lowland inselberg plant diversity.
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- Biodiversity Data Journal, 2020, p. 1, doi. 10.3897/BDJ.8.e53135
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- Article
Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study.
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- Acta Médica Portuguesa, 2023, v. 36, n. 5, p. 336, doi. 10.20344/amp.18607
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- Article
Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal.
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- Acta Médica Portuguesa, 2019, v. 32, n. 12, p. 767, doi. 10.20344/amp.11880
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- Article
Impedimentos à Prescrição de Anticoagulação na Fibrilhação Auricular e Atitude Face aos Novos Anticoagulantes Orais.
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- Acta Médica Portuguesa, 2013, v. 26, n. 2, p. 127
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- Article
Cytogenetic Key to Identification of Triatominae Species Reported in an Outbreak Region of Oral Transmission of Chagas Disease in the Brazilian Northeast.
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- American Journal of Tropical Medicine & Hygiene, 2023, v. 108, n. 6, p. 1161, doi. 10.4269/ajtmh.22-0697
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- Article
Evolutionary History and Functional Diversification of Phosphomannomutase Genes.
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- Journal of Molecular Evolution, 2010, v. 71, n. 2, p. 119, doi. 10.1007/s00239-010-9368-5
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- Article
The Role of Recombination in the Origin and Evolution of Alu Subfamilies.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064884
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- Article
The Evolutionary Portrait of Metazoan NAD Salvage
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- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064674
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- Article
Gains, Losses and Changes of Function after Gene Duplication: Study of the Metallothionein Family.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018487
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- Article
Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).
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- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004553
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- Article