Browsing by Subject

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)

A PIMS is not always a PIMS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary

Martín, T.; Miravitlles Fernández, Marc; Furtado, S.T. (Elsevier, 2021-05)

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)

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

Martínez-Rubio, Dolores; Hinarejos Martínez, Isabel; Sancho, Paula; Gorría-Redondo, Nerea; Bernadó Fonz, Raquel Ana; Tello Diaz, Cristina; Perez Dueñas, Belen (MDPI, 2022-10-06)

When Sugar Reaches the Liver: Phenotypes of Patients with Diabetes and NAFLD

Rojano Toimil, Alba; Rivera Esteban, Jesus Manuel; Manzano Nuñez, Ramiro; Juan Bañares Sanchez, Juan; Martinez Selva, David; Gabriel Medina, Pablo; Ferrer Costa, Roser; Pericàs Pulido, Juan Manuel; Ciudin Mihai, Andreea (MDPI, 2022-06-08)

Scientia. Dipòsit d'Informació Digital del Departament de Salut