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Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: cruz j. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study).
de Andrés-Nogales F, Cruz E, Calleja MÁ, Delgado O, Gorgas MQ, Espín J, Mestre-Ferrándiz J, Palau F, Ancochea A, Arce R, Domínguez-Hernández R, Casado MÁ; FinMHU-MCDA Group. de Andrés-Nogales F, et al. Among authors: cruz e. Orphanet J Rare Dis. 2021 Apr 26;16(1):186. doi: 10.1186/s13023-021-01809-1. Orphanet J Rare Dis. 2021. PMID: 33902672 Free PMC article.
Exploring a Preliminary Set of Indicators to Measure Adolescent Health: Results From a 12-Country Feasibility Study.
Kågesten AE, Marsh AD, Storey S, Abduvahobov P, Adebayo E, Amezquita Velásquez AI, Azzopardi PS, Ba MG, Bose K, Camara MK, Cardona M, da Cruz J, Dastgiri S, Fagan L, Ferguson BJ, Giyava CR, Karna P, Keogh SC, Melkumova M, Moller AB, Newby H, Swai E, Tchandana M, Uzma Q, Yoffo GJ, Zainal Abidin Z, Zbelo M, Guthold R. Kågesten AE, et al. Among authors: da cruz j. J Adolesc Health. 2024 Jun;74(6S):S66-S79. doi: 10.1016/j.jadohealth.2024.01.017. J Adolesc Health. 2024. PMID: 38762265 Free article.
Factors associated with differential seropositivity to Leptospira interrogans and Leptospira kirschneri in a high transmission urban setting for leptospirosis in Brazil.
de Oliveira D, Khalil H, Almerinda G Palma F, Santana R, Nery N Jr, C Quintero-Vélez J, Zeppelini CG, Almeida do Sacramento G, Cruz JS, Lustosa R, Santana Ferreira I, Carvalho-Pereira T, Diggle PJ, Wunder EA Jr, I Ko A, Alzate Lopez Y, Begon M, G Reis M, Costa F. de Oliveira D, et al. Among authors: cruz js. PLoS Negl Trop Dis. 2024 May 17;18(5):e0011292. doi: 10.1371/journal.pntd.0011292. Online ahead of print. PLoS Negl Trop Dis. 2024. PMID: 38758957 Free article.
Performance of glial fibrillary acidic protein (GFAP) and ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) biomarkers in predicting CT scan results and neurological outcomes in children with traumatic brain injury (BRAINI-2 paediatric study): protocol of a European prospective multicentre study.
Lorton F, Lagares A, de la Cruz J, Méjan O, Pavlov V, Sapin V, Poca MA, Lehner M, Biberthaler P, Chauviré-Drouard A, Gras-Le-Guen C, Scherdel P; BRAINI–2 paediatric Collaborative group; Collaborators. Lorton F, et al. Among authors: de la cruz j. BMJ Open. 2024 May 15;14(5):e083531. doi: 10.1136/bmjopen-2023-083531. BMJ Open. 2024. PMID: 38754888 Free PMC article.
3,208 results