Browsing by Author "Gil-Salvador, Marta"
Now showing items 1-3 of 3
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Latorre Pecillera, Ana; Gil Salvador, Marta; Parenti, Ilaria; Lucía Campos, Cristina; Trujillano, Laura; Marcos Alcalde, Íñigo
; Arnedo, María; Ascaso, Ángela; Ayerza‑Casas, Ariadna; Antoñanzas Pérez, Rebeca; Gervasini, Cristina; Piccione, María; Marini, Milena; Weber, Axel; Kuechler, Alma; Bueno‑Lozano, Gloria; Gómez‑Puertas, Paulino; Kaiser, Frank J.; Pié, Juan (Scientific Reports, 2021)
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes. Latorre Peciller, Ana; Ascaso, Ángela; Trujillano, Laura; Gil Salvador, Marta; Arnedo, María; Lucía Campos, Cristina; Antoñanzas Pérez, Rebeca; Marcos Alcalde, Íñigo; Parenti, Ilaria; Bueno Lozano, Gloria; Musio, Antonio; Puisac, Beatriz; Kaiser, Frank J.; Ramos, Feliciano J.; Gómez Puertas, Paulino; Pie, Juan (International Journal of Molecular Sciences, 2020)
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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11. Latorre-Pellicer, Ana; Ascaso, Ángela; Lucia-Campos, Cristina; Gil-Salvador, Marta; Arnedo, María; Antoñanzas, Rebeca; Ayerza-Casas, Ariadna; Marcos Alcalde, Íñigo; Gómez Puertas, Paulino; Ramos, Feliciano J.; Pié, Juan; Puisac, Beatriz (Molecular Genetics and Genomic Medicine, 2021)