Visualitza HVH - Articles científics per autor "Valenzuela Palafoll, Ma Irene"
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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) -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo; Alavi, Shahryar; Faqeih, Eissa; Valenzuela Palafoll, Ma Irene (Elsevier, 2023-01) -
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) -
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) -
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel; Marques, Isabel; Soares, Gabriela; Valenzuela Palafoll, Ma Irene (Wiley, 2023-01) -
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)