A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy
Araújo-Vilar, David, Lado-Abeal, Joaquin, Palos-Paz, Fernando, Lattanzi, Giovanna, Bandín, Manuel A., Bellido, Diego, Domínguez-Gerpe, Lourdes, Calvo, Carlos, Pérez, Oscar, Ramazanova, Alia, Martínez-Sánchez, Noelia, Victoria, Berta, Costa-Freitas, Ana Teresa
Published in Clinical endocrinology (Oxford) (01.07.2008)
Published in Clinical endocrinology (Oxford) (01.07.2008)
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Journal Article
Evolution of the thymus size in response to physiological and random events throughout life
Domínguez-Gerpe, Lourdes, Rey-Méndez, Manuel
Published in Microscopy research and technique (15.12.2003)
Published in Microscopy research and technique (15.12.2003)
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Journal Article
Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia)
Lago-Lestón, Ramón, Iglesias, María-José, San-José, Esther, Areal, Carlos, Eiras, Adolfo, Araújo-Vilar, David, Lado-Abeal, Joaquín, Domínguez-Gerpe, Lourdes
Published in Clinical endocrinology (Oxford) (01.04.2009)
Published in Clinical endocrinology (Oxford) (01.04.2009)
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Journal Article
Circular PCR as an efficient and precise umbrella of methods for the generation of circular dsDNA with staggered nicks: Mechanism and types
Ferro-Gallego, Pedro, Vila-Sanjurjo, Antón, Valderrama Pereira, Andrea Katherine, Porres Pérez, Gonzalo, Domínguez-Gerpe, Lourdes
Published in Biology methods and protocols (12.08.2024)
Published in Biology methods and protocols (12.08.2024)
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Journal Article
Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies
Palos, Fernando, García-Rendueles, María E. R., Araujo-Vilar, David, Obregon, Maria Jesús, Calvo, Rosa Maria, Cameselle-Teijeiro, Jose, Bravo, Susana B., Perez-Guerra, Oscar, Loidi, Lourdes, Czarnocka, Barbara, Alvarez, Paula, Refetoff, Samuel, Dominguez-Gerpe, Lourdes, Alvarez, Clara V., Lado-Abeal, Joaquin
Published in The journal of clinical endocrinology and metabolism (01.01.2008)
Published in The journal of clinical endocrinology and metabolism (01.01.2008)
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Journal Article