Visualitza per autor "García Prat, Marina"
Ara mostrant els elements 1-6 d 6
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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) -
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Martín Nalda, Andrea; Rivière, Jacques; Catala-Besa, Mireia; García Prat, Marina; Parra Martínez, Alba; Colobran Oriol, Roger; Alonso Garcia, Laura; Arranz Amo, José Antonio; Soler Palacín, Pere; Martínez Gallo, Mónica (MDPI, 2021-12) -
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) -
First universal newborn screening program for severe combined immunodeficiency in Europe: two-years' experience in Catalonia (Spain)
Argudo-Ramírez, Ana; Martín Nalda, Andrea; Pajares Garcia, Sonia; García Prat, Marina; Colobran Oriol, Roger; Rivière, Jacques; Soler Palacín, Pere; Marin Soria, José Luis; Lopez Galera, Rosa Maria; González de Aledo Castillo, José Manuel; Martínez Gallo, Mónica (Frontiers Media, 2019-10-22) -
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome
Dimitrova, Dimana; Nademi, Zohreh; Maccari, Maria Elena; Ehl, Stephan; Uzel, Gulbu; Tomoda, Takahiro; García Prat, Marina; Soler Palacín, Pere (Elsevier, 2022-01) -
Newborn Screening for SCID: Experience in Spain (Catalonia)
Argudo-Ramírez, Ana; Martín Nalda, Andrea; González de Aledo Castillo, José Manuel; Lopez Galera, Rosa Maria; Marin Soria, José Luis; Pajares Garcia, Sonia; García Prat, Marina; Colobran Oriol, Roger; Rivière, Jacques; Soler Palacín, Pere (MDPI, 2021-07-20)