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Chilblains outbreak during COVID-19 pandemic: A Type-I interferonopathy?
Mensa-Vilaró A, Vicente A, Español-Rego M, Antón J, Fabregat V, Fortuny C, González EA, Fumadó V, González-Roca E, Jou C, Plaza S, Mosquera JM, Yagüe J, Prat C, Pascal M, Juan M, Arostegui JI, Baselga E, Alsina L. Mensa-Vilaró A, et al. Among authors: jou c. Pediatr Allergy Immunol. 2022 Oct;33(10):e13860. doi: 10.1111/pai.13860. Pediatr Allergy Immunol. 2022. PMID: 36282139 Free PMC article. No abstract available.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: jou c. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Among authors: jou c. Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Orphanet J Rare Dis. 2015. PMID: 26714856 Free PMC article. Review.
Detection of GB virus C by the RT-PCR LCx system.
Marshall RL, Cockerill J, Friedman P, Hayden M, Hodges S, Holas C, Jennings C, Jou CK, Kratochvil J, Laffler T, Lewis N, Scheffel C, Traylor D, Wang L, Solomon N. Marshall RL, et al. Among authors: jou ck. J Virol Methods. 1998 Jul;73(1):99-107. doi: 10.1016/s0166-0934(98)00050-0. J Virol Methods. 1998. PMID: 9705181
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. Thompson K, et al. Among authors: jou c. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.
156 results