Listar por autor "Castells Sarret, Neus"
Mostrando ítems 1-4 de 4
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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) -
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Franco Jarava, Clara; Valenzuela Palafoll, Ma Irene; Rivière, Jacques; García Prat, Marina; Dieli Crimi, Romina; Castells Sarret, Neus; Batlle Masó, Laura; Soler Palacín, Pere; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2022-06-17) -
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) -
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
Martín Nalda, Andrea; Cueto Gonzalez, Anna Maria; Argudo-Ramírez, Ana; Colobran Oriol, Roger; Plaja Rustein, Alberto; Castells Sarret, Neus; Rivière, Jacques; Tizzano Ferrari, Eduardo Fidel; Soler Palacín, Pere; Marin Soria, José Luis; Martínez Gallo, Mónica (Wiley Online Library, 2019-10-30)