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Page 1
Proceedings of the 3rd IPLeiria's International Health Congress : Leiria, Portugal. 6-7 May 2016.
Tomás CC, Oliveira E, Sousa D, Uba-Chupel M, Furtado G, Rocha C, Teixeira A, Ferreira P, Alves C, Gisin S, Catarino E, Carvalho N, Coucelo T, Bonfim L, Silva C, Franco D, González JA, Jardim HG, Silva R, Baixinho CL, Presado MªH, Marques MªF, Cardoso ME, Cunha M, Mendes J, Xavier A, Galhardo A, Couto M, Frade JG, Nunes C, Mesquita JR, Nascimento MS, Gonçalves G, Castro C, Mártires A, Monteiro MªJ, Rainho C, Caballero FP, Monago FM, Guerrero JT, Monago RM, Trigo AP, Gutierrez ML, Milanés GM, Reina MG, Villanueva AG, Piñero AS, Aliseda IR, Ramirez FB, Ribeiro A, Quelhas A, Manso C, Caballero FP, Guerrero JT, Monago FM, Santos RB, Jimenez NR, Nuñez CG, Gomez IR, Fernandez MªJL, Marquez LA, Moreno AL, Huertas MªJT, Ramirez FB, Seabra D, Salvador MªC, Braga L, Parreira P, Salgueiro-Oliveira A, Arreguy-Sena C, Oliveira BF, Henriques MªA, Santos J, Lebre S, Marques A, Festas C, Rodrigues S, Ribeiro A, Lumini J, Figueiredo AG, Hernandez-Martinez FJ, Campi L, Quintana-Montesdeoca MªP, Jimenez-Diaz JF, Rodriguez-De-Vera BC, Parente A, Mata MªA, Pereira AMª, Fernandes A, Brás M, Pinto MªR, Parreira P, Basto ML, Rei AC, Mónico LM, Sousa G, Morna C, Freitas O, Freitas G, Jardim A, Vasconcelos … See abstract for full author list ➔ Tomás CC, et al. Among authors: matos ar. BMC Health Serv Res. 2016 Jul 6;16 Suppl 3(Suppl 3):200. doi: 10.1186/s12913-016-1423-5. BMC Health Serv Res. 2016. PMID: 27409075 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Central Venous Catheter-Associated Superior Vena Cava Syndrome.
Silva Araújo C, Domingues RM, Couto P, Matos AR, Ângela CC. Silva Araújo C, et al. Among authors: matos ar. Cureus. 2023 Apr 18;15(4):e37756. doi: 10.7759/cureus.37756. eCollection 2023 Apr. Cureus. 2023. PMID: 37213957 Free PMC article.
COVID-19 Associated Central Nervous System Vasculopathy.
Matos AR, Quintas-Neves M, Oliveira AI, Dias L, Marques S, Carvalho R, Alves JN. Matos AR, et al. Can J Neurol Sci. 2021 Jan;48(1):139-140. doi: 10.1017/cjn.2020.109. Epub 2020 Jun 2. Can J Neurol Sci. 2021. PMID: 32484130 Free PMC article. No abstract available.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
100 results