Search Results - "Pires, Luís Miguel"

Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review by Jesus-Ribeiro, Joana, Pires, Luís Miguel, Melo, João Daniel, Ribeiro, Ilda Patrícia, Rebelo, Olinda, Sales, Francisco, Freire, António, Melo, Joana Barbosa

“…Focal cortical dysplasias (FCDs) are a group of malformations of cortical development that constitute a common cause of drug-resistant epilepsy, often…”
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The landscape of common genetic drivers and DNA methylation in low‐grade (epilepsy‐associated) neuroepithelial tumors: A review by Jesus‐Ribeiro, Joana, Rebelo, Olinda, Ribeiro, Ilda Patrícia, Pires, Luís Miguel, Melo, João Daniel, Sales, Francisco, Santana, Isabel, Freire, António, Melo, Joana Barbosa

“…Low‐grade neuroepithelial tumors (LNETs) represent an important group of central nervous system neoplasms, some of which may be associated to epilepsy. The…”
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Tremor is a major feature of 9p13 deletion syndrome by Ferreira, Susana Isabel, Cinnirella, Giacomo, Ramos, Lina, Suppa, Antonio, Pires, Luís Miguel, Nardone, Anna Maria, Camerota, Letizia, Lanciotti, Silvia, Galasso, Cinzia, De Maio, Fernando, Melo, Joana Barbosa, Carreira, Isabel Marques, Brancati, Francesco

“…Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability,…”
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Intratumoral Heterogeneity in Uveal Melanoma by Fonseca, Cristina, Pinto-Proença, Rita, Bergeron, Sabrina, Pires, Luís Miguel, Fernandes, Júlia, Carreira, Isabel Marques, Burnier, Miguel N., Proença, Rui

“…Tumor biopsies in uveal melanoma (UM) serve mainly the purpose of prognostication and assessment of individual metastatic risk, but can be used for diagnosis…”
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Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients by Beleza-Meireles, Ana, Hart, Rachel, Clayton-Smith, Jill, Oliveira, Renata, Reis, Cláudia Falcão, Venâncio, Margarida, Ramos, Fabiana, Sá, Joaquim, Ramos, Lina, Cunha, Elizabete, Pires, Luís Miguel, Carreira, Isabel Marques, Scholey, Rachel, Wright, Ronnie, Urquhart, Jill E, Briggs, Tracy A, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Donnai, Dian, Newman, William G, Saraiva, Jorge Manuel, Tassabehji, May

“…Abstract Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210 ) is a craniofacial developmental disorder affecting the development of the…”
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Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy by Jesus-Ribeiro, Joana, Ribeiro, Ilda Patrícia, Pires, Luís Miguel, Paiva, Patrícia, Simões, Sandra, Pereira, Cristina, Robalo, Conceição, Pereira, Ricardo, Sales, Francisco, Rebelo, Olinda, Santana, Isabel, Freire, António, Barbosa Melo, Joana

“…A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the…”
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Illustrated keys and a DNA barcode reference library of the amphibians and terrestrial reptiles (Amphibia, Reptilia) of São Tomé and Príncipe (Gulf of Guinea, West Africa) by Ceríaco, Luis Miguel Pires, Marques, Mariana Pimentel, de Sousa, Ana Carolina Andrade, Veríssimo, Joana, Beja, Pedro, Ferreira, Sónia

“…The herpetofauna of São Tomé and Príncipe consists of nine species of amphibians, all endemic, and 21 species of terrestrial reptiles, of which 17 are endemic…”
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Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients by Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa

“…Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained…”
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Design and Implementation of a Low-Power Device for Non-Invasive Blood Glucose by Pires, Luis Miguel, Martins, José

“…Glucose is a simple sugar molecule. The chemical formula of this sugar molecule is C6H12O6. This means that the glucose molecule contains six carbon atoms (C),…”
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Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event by Ferreira, Susana Isabel, Pires, Luís Miguel, Ferrão, José, Sá, Joaquim, Serra, Armando, Carreira, Isabel Marques

“…Fragile X syndrome is caused by the expansion of an unstable CGG repeat in the 5′UTR of FMR1 gene. The occurrence of mosaicism is not uncommon, especially in…”
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The Challenge of Somatic Variants in Focal Cortical Dysplasia by Jesus-Ribeiro, Joana, Pires, Luís Miguel, Ribeiro, Ilda Patrícia, Rebelo, Olinda, Pereira, Ricardo, Sales, Francisco, Santana, Isabel, Freire, António, Melo, Joana Barbosa

“…The advent of next-generation sequencing (NGS) enabled the detection of low-level brain somatic variants in postsurgical tissue of focal cortical dysplasia…”
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Communication between dentists and dental technicians in Lisbon for the construction of removable partial dentures’ metal frameworks by Gomes, Isabel, Reis, Filipa, Mendes, Teresa, Lopes, Luís

“…Objectives: To evaluate the communication between dentists and dental technicians in Lisbon for the construction of metal frameworks for removable partial…”
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3D-printed CAD/CAM complete dentures – Case report by Gomes, Isabel, Martins, João, Branco, Cátia, Lopes, Luís

“…Dentures are used to restore missing teeth and are traditionally fabricated using the lostwax technique. The flasking process is arduous, time-consuming,…”
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The Impact of Entrepreneurship and National Innovation Systems on the Sustainability of Economic Growth - Case Study of European Countries by Mendes, Luís Miguel Pires Pereira Tubarão

“…Economic growth is a long-studied subject searching for the conventional causes that lead to its balanced path. New knowledge is treasured and one of the main…”
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Non-Invasive Prenatal Screening for Common Aneuploidies - Implementation, Consolidation and Future by Pires, Luís Miguel Lopes Marques

“…Introdução e Objetivos: O diagnóstico pré-natal (DPN) é definido pelos procedimentos, médicos e laboratoriais, que permitam acompanhar o bom desenvolvimento do…”
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Processing Underpinings of Executive Functions Across Adulthood: The Interplay of Cognitive Control and Inhibition by da Silva Pires, Luís Miguel

“…IntroductionExecutive Functions (EF) are a set of “higher-level” cognitive functions that allow quick shifts of mindset, necessary to adapt our behaviour to a…”
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Desenvolvimento e Aplicação de um Modelo de Suporte à Validação de Ideias de Negócio Baseadas em Novos Produtos ou Serviços by Durães, Luís Miguel Pires

“…No atual contexto de competição global, os avanços tecnológicos, a par da constante alteração dos hábitos de consumo e do elevado nível de exigência dos…”
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Estágio de Observação em Emergência Médica, No Porto by Pedro, Luís Miguel Pires

“…No decorrer da minha formação, no Mestrado Integrado em Medicina do Instituto de Ciências Biomédicas Abel Salazar, foi crescendo, em mim, uma certa curiosidade…”
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Illustrated keys and a DNA barcode reference library of the amphibians and terrestrial reptiles by Ceríaco, Luis Miguel Pires, Marques, Mariana Pimentel, de Sousa, Ana Carolina Andrade, Veríssimo, Joana, Beja, Pedro, Ferreira, Sónia

“…The herpetofauna of São Tomé and Príncipe consists of nine species of amphibians, all endemic, and 21 species of terrestrial reptiles, of which 17 are endemic…”
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Model-Driven Generative Programming for Bis Mobile Applications by da Silva, Luís Miguel Pires Teixeira

“…The burst on the availability of smart phones based on the Android platform calls for cost-effective techniques to generate mobile apps for general purpose,…”
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