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Cornelia de Lange Spectrum by Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
Published 2024-05-01
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Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome by Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J. Ramos, Juan Pié
Published 2022-09-01
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Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome by Ángel Matute-Llorente, Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan José Puente-Lanzarote, Ariadna Ayerza-Casas, María Arnedo, Luis A. Moreno, Feliciano Ramos, Juan Pié, José A. Casajus, Gloria Bueno-Lozano
Published 2021-01-01
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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome by Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano
Published 2024-06-01
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Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity by José Luis Cabrera-Alarcon, Raquel Cruz, Marina Rosa-Moreno, Ana Latorre-Pellicer, Silvia Diz de Almeida, Scourge Cohort Group, José A. Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Fátima Sánchez-Cabo, Ángel Carracedo, José Antonio Enriquez
Published 2025-01-01
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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype by Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Palma Finelli, Lidia Larizza, María Arnedo, Ariadna Ayerza-Casas, Ariadna Ayerza-Casas, Julia Del Rincón, Laura Trujillano, Laura Trujillano, Beatriz Morte, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Elsa Leitão, Jasmin Beygo, Christina Lich, Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J. Kaiser, Frank J. Kaiser, Feliciano J. Ramos, Beatriz Puisac, Juan Pié
Published 2024-11-01
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Remission of obesity and insulin resistance is not sufficient to restore mitochondrial homeostasis in visceral adipose tissue by Alba Gonzalez-Franquesa, Pau Gama-Perez, Marta Kulis, Karolina Szczepanowska, Norma Dahdah, Sonia Moreno-Gomez, Ana Latorre-Pellicer, Rebeca Fernández-Ruiz, Antoni Aguilar-Mogas, Anne Hoffman, Erika Monelli, Sara Samino, Joan Miró-Blanch, Gregor Oemer, Xavier Duran, Estrella Sanchez-Rebordelo, Marc Schneeberger, Merce Obach, Joel Montane, Giancarlo Castellano, Vicente Chapaprieta, Wenfei Sun, Lourdes Navarro, Ignacio Prieto, Carlos Castaño, Anna Novials, Ramon Gomis, Maria Monsalve, Marc Claret, Mariona Graupera, Guadalupe Soria, Christian Wolfrum, Joan Vendrell, Sonia Fernández-Veledo, Jose Antonio Enríquez, Angel Carracedo, José Carlos Perales, Rubén Nogueiras, Laura Herrero, Aleksandra Trifunovic, Markus A. Keller, Oscar Yanes, Marta Sales-Pardo, Roger Guimerà, Matthias Blüher, José Ignacio Martín-Subero, Pablo M. Garcia-Roves
Published 2022-08-01
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