Browsing HVH - Articles científics by Author "Valenzuela Palafoll, Ma Irene"
Now showing items 1-6 of 6
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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; Latorre-Pellicer, Ana; Ros-Pardo, David; Gil Salvador, Marta; Arnedo, Maria; Castells Sarret, Neus; Plaja Rustein, Alberto; Tenés Felipe, Anna; Cuscó Martín, Ivon; Trujillano Lidón, Laura; Tizzano Ferrari, Eduardo Fidel (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; Martínez Gallo, Mónica; Dieli Crimi, Romina; Castells Sarret, Neus; Batlle Masó, Laura; Soler Palacín, Pere; Colobran Oriol, Roger (Frontiers Media, 2022-06-17) -
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Balasubramanian, Meena; Dingemans, Alexander J. M.; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M.; Cox, Helen; Valenzuela Palafoll, Ma Irene (Springer Nature, 2021-04) -
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela Palafoll, Ma Irene; Larson, Austin; Reed, Sara (Cold Spring Harbor Laboratory Press, 2021-08) -
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa; Lapunzina, Pablo; Rodó Rodríguez, Carlota; Valenzuela Palafoll, Ma Irene (Wiley, 2022-06) -
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Valenzuela Palafoll, Ma Irene; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2021-05)