Visualitza per autor "Martín Nalda, Andrea"
Ara mostrant els elements 1-11 d 11
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Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction
Català-Moll, Francesc; Ferrete-Bonastre, Anna G.; Li, Tianlu; Weichenhan, Dieter; Lutsik, Pavlo; Ciudad, Laura; Dieli Crimi, Romina; Rivière, Jacques; Martín Nalda, Andrea; Colobran Oriol, Roger; Soler Palacín, Pere; Martínez Gallo, Mónica (Oxford University Press, 2021-05-21) -
Clinical Presentations and Outcomes Related to Tuberculosis in Children Younger Than 2 Years of Age in Catalonia
Soriano Arandes, Antoni; Brugueras, Silvia; Rodríguez Chitiva, Alejandro; Noguera-Julián, Antoni; Orcau-Palau, Àngels; Martín Nalda, Andrea; Soler Palacín, Pere (Frontiers Media, 2019-06-11) -
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) -
Epidemiology of congenital Chagas disease 6 years after implementation of a public health surveillance system, Catalonia, 2010 to 2015
Ciruela-Navas, Pilar; Requena-Méndez, Ana; Vidal, Maria J.; Dopico, Eva; Martín Nalda, Andrea; Sulleiro Igual, Elena; Basile, Luca (European Centre for Disease Prevention and Control, 2019-06) -
Epigenome-wide association study of COVID-19 severity with respiratory failure
Castro de Moura, Manuel; Planas Serra, Laura; Alvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Colobran Oriol, Roger; Martín Nalda, Andrea; Soler Palacín, Pere; Davalos, Veronica (Elsevier, 2021-04) -
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) -
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Arias-Salgado, Elena G.; Galvez, Eva; Planas-Cerezales, Lurdes; Pintado-Berninches, Laura; Vallespin, Elena; Martinez, Pilar; Martín Nalda, Andrea; Díaz de Heredia Rubio, Maria Cristina; Martínez Gallo, Mónica; Uria Oficialdegui, Maria Luz (BMC, 2019-04-17) -
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
Martín Nalda, Andrea; Cueto Gonzalez, Anna Maria; Argudo-Ramírez, Ana; Colobran Oriol, Roger; Plaja Rustein, Alberto; Castells Sarret, Neus; Rivière, Jacques; Tizzano Ferrari, Eduardo Fidel; Soler Palacín, Pere; Marin Soria, José Luis; Martínez Gallo, Mónica (Wiley Online Library, 2019-10-30) -
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) -
The challenge of the laboratory diagnosis in a confirmed congenital Zika virus syndrome in utero: A case report
Sulleiro Igual, Elena; Frick, Marie Antoinette; Rodó Rodríguez, Carlota; Espasa Soley, Mateu; Thorne, Claire; Espiau Guarner, Maria; Martín Nalda, Andrea; Suy Franch, Anna; Melendo Perez, Susana; Pumarola Suñé, Tomàs; Soler Palacín, Pere; Soriano Arandes, Antoni; Rando Segura, Ariadna (Wolters Kluwer, 2019-05)