Visualitza per autor "Baz Redón, Noelia"
Ara mostrant els elements 1-2 d 2
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Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings
Rudilla Salvador, Francesc; Franco Jarava, Clara; García Prat, Marina; Martín Nalda, Andrea; Rivière, Jacques; Aguiló Cucurull, Aina; Vidal Pérez, Francisco; Cuscó Martín, Ivon; Serra Juhe, Clara; Baz Redón, Noelia; Fernández Cancio, Mónica; García-Patos Briones, Vicente; Pujol-Borrell, Ricardo; Soler Palacín, Pere; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2019-10-01) -
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
Baz Redón, Noelia; Soler Colomer, Laura; Fernández Cancio, Mónica; Benito-Sanz, Sara; Garrido-Pontnou, Marta; Moline Marimon, Teresa; Clemente Leon, Maria; Camats Tarruella, Nuria; Yeste Fernandez, Diego (Frontiers Media, 2022-10-11)