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2020 3
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2023 1
2024 0

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Page 1
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
Jönsson ÅLM, Bendstrup E, Mogensen S, Kopras EJ, McCormack FX, Campo I, Mariani F, Escribano-Montaner A, Holm AM, Martinez-Colls MDM, Pintos-Morell G, Taillé C, Crestani B, Hilberg O, Hvarregaard Christensen J, Simonsen U. Jönsson ÅLM, et al. Among authors: martinez colls mdm. Eur Respir J. 2020 Feb 27;55(2):1900806. doi: 10.1183/13993003.00806-2019. Print 2020 Feb. Eur Respir J. 2020. PMID: 31831582 Free article.
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A. Baz-Redón N, et al. Among authors: martinez colls mdm. Arch Bronconeumol (Engl Ed). 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3. Arch Bronconeumol (Engl Ed). 2021. PMID: 32253119 English, Spanish.
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E. Rovira-Remisa MM, et al. Among authors: del mar martinez colls m. Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6. Mol Genet Metab Rep. 2023. PMID: 36909454 Free PMC article.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N, Moreno-Galdó A. Baz-Redón N, et al. Among authors: martinez colls mdm. J Clin Med. 2020 Nov 9;9(11):3603. doi: 10.3390/jcm9113603. J Clin Med. 2020. PMID: 33182294 Free PMC article.