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Page 1
[Epilepsy and hair alterations in a neonate].
Martín Nalda A, Raspall Chaure M, del Toro Riera M, Macaya Ruiz A, Roig Quilis M. Martín Nalda A, et al. An Pediatr (Barc). 2005 Oct;63(4):383-4. doi: 10.1157/13079831. An Pediatr (Barc). 2005. PMID: 16219269 Free article. Spanish. No abstract available.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland… See abstract for full author list ➔ Matuozzo D, et al. Among authors: martin nalda a. medRxiv [Preprint]. 2022 Oct 25:2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. medRxiv. 2022. Update in: Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8 PMID: 36324795 Free PMC article. Updated. Preprint.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
Batlle-Masó L, Rivière JG, Franco-Jarava C, Martín-Nalda A, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Castells N, Martinez-Gallo M, Soler-Palacín P, Colobran R. Batlle-Masó L, et al. Among authors: martin nalda a. J Clin Immunol. 2023 Nov;43(8):1953-1963. doi: 10.1007/s10875-023-01556-x. Epub 2023 Aug 19. J Clin Immunol. 2023. PMID: 37597073
[Recurrent meningitis due to anatomical defects: The bacteria indicates its origin].
Morgenstern Isaak A, Bach Faig A, Martínez S, Martín-Nalda A, Vázquez Méndez E, Pumarola Segura F, Soler-Palacín P. Morgenstern Isaak A, et al. Among authors: martin nalda a. An Pediatr (Barc). 2015 Jun;82(6):388-96. doi: 10.1016/j.anpedi.2014.09.008. Epub 2014 Oct 29. An Pediatr (Barc). 2015. PMID: 25446794 Free article. Spanish.
[50 years of the Neonatal Screening Program in Catalonia.].
Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols Roig M, Costa Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol Plana J, García Cazorla Á, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch Iriberri R, García-Volpe C, de Los Santos MM, Sierra March C, Ruiz Hernández CJ, Meavilla Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B, Cabezas Peña C. Marín Soria JL, et al. Among authors: martin nalda a. Rev Esp Salud Publica. 2020 Dec 16;94:e202012177. Rev Esp Salud Publica. 2020. PMID: 33323926 Free PMC article. Spanish.
[Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society].
Calvo Rey C, Soler-Palacín P, Merino Muñoz R, Saavedra Lozano J, Antón López J, Aróstegui JI, Blázquez Gamero D, Martín-Nalda A, Juan M, Méndez M, Piñeiro Perez R, Calvo I; Sociedad de Infectología Pediátrica; Sociedad de Reumatología Pediátrica. Calvo Rey C, et al. Among authors: martin nalda a. An Pediatr (Barc). 2011 Mar;74(3):194.e1-16. doi: 10.1016/j.anpedi.2010.09.022. Epub 2010 Dec 18. An Pediatr (Barc). 2011. PMID: 21169071 Free article. Spanish.
[The Spanish Society of Paediatric Infectious Diseases (SEIP) recommendations on the diagnosis and management of invasive candidiasis].
Figueras C, Díaz de Heredia C, García JJ, Navarro M, Ruiz-Contreras J, Rossich R, Rumbao J, Frick MA, Roselló EM; Grupo de Estudio de la Infección Fúngica Invasiva de la Sociedad Española de Infectología Pediátrica (SEIP). Figueras C, et al. An Pediatr (Barc). 2011 May;74(5):337.e1-337.e17. doi: 10.1016/j.anpedi.2010.12.012. Epub 2011 Mar 10. An Pediatr (Barc). 2011. PMID: 21396895 Free article. Spanish.
[Evaluation of a program for assessing adherence to antiretroviral treatment].
Valdivia Vadell C, Soler-Palacín P, Martín-Nalda A, Cabañas Poy MJ, Clemente Bautista S, Espiau Guarner M, Figueras Nadal C. Valdivia Vadell C, et al. Among authors: martin nalda a. An Pediatr (Barc). 2011 Dec;75(6):380-95. doi: 10.1016/j.anpedi.2011.05.013. Epub 2011 Jul 14. An Pediatr (Barc). 2011. PMID: 21757410 Free article. Spanish.
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