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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: jorge a. 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.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: jorge aal. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium; Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M. Lin YC, et al. Among authors: jorge aal. Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11. Am J Hum Genet. 2021. PMID: 33308444 Free PMC article.