Browsing by Author "Pié, Juan"
Now showing items 1-4 of 4
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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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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. Puisac, Beatriz; Marcos Alcalde, Íñigo; Hernández Marcos, María; Tobajas Morlana, Pilar; Levtova, Alina; C. Schwahn, Bernd; DeLaet, Corinne; Lace, Baiba; Gómez Puertas, Paulino; Pié, Juan (International Journal of Molecular Sciences, 2018)
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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)