Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

by María Arnedo, Sebastián Menao, Beatriz Puisac, María E. Teresa-Rodrigo, María C. Gil-Rodríguez, Eduardo López-Viñas, Paulino Gómez-Puertas, Nuria Casals, César H. Casale, Fausto G. Hegardt, Juan Pié
Published 2012-10-01

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

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

by Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez-Puertas, Juan Pié
Published 2020-02-01

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

by Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Published 2021-07-01