Browsing by Author "Trujillano Lidón, Laura"
Now showing items 1-3 of 3
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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia Campos, Cristina; Valenzuela Palafoll, Ma Irene; Ros-Pardo, David; Arnedo, Maria; Castells Sarret, Neus; Plaja Rustein, Alberto; Tenés Felipe, Anna; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel; Latorre-Pellicer, Ana; Gil Salvador, Marta; Trujillano Lidón, Laura (MDPI, 2022-08-08) -
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
van der Laan, Liselot; Rooney, Kathleen; Haghshenas, Sadegheh; Silva, Ananilia; McConkey, Haley; Relator, Raissa; Lasa-Aranzasti, Amaia; Castells Sarret, Neus; Valenzuela, Irene; Trujillano Lidón, Laura; Campos Estela, Berta (MDPI, 2023-09-18) -
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder
Latorre-Pellicer, Ana; Trujillano Lidón, Laura; del Rincón de la Villa, Julia; Peña-Marco, Mónica; Gil Salvador, Marta; Lucia Campos, Cristina (MDPI, 2023-06-14)