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Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal.
Gaio V, Picanço I, Nunes B, Fernandes A, Mendonça F, Horta Correia F, Beleza Á, Gil AP, Bourbon M, Vicente A, Matias Dias C, Barreto da Silva M. Gaio V, et al. Among authors: beleza a. Public Health Genomics. 2015;18(3):139-50. doi: 10.1159/000373920. Epub 2015 Mar 10. Public Health Genomics. 2015. PMID: 25766488
Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal.
Gaio V, Nunes B, Fernandes A, Mendonça F, Horta Correia F, Beleza A, Gil AP, Bourbon M, Vicente A, Dias CM, Barreto da Silva M. Gaio V, et al. Among authors: beleza a. Diabetol Metab Syndr. 2014 Feb 18;6(1):23. doi: 10.1186/1758-5996-6-23. Diabetol Metab Syndr. 2014. PMID: 24548628 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
COVID-19-associated Coagulopathy Characterization using Rotational Thromboelastometry in a Prospective, Observational Cohort Study: The HemoCoV Study.
Rodrigues A, Dias Domingues T, Nobre Jesus G, Garção A, Rodrigues AR, Jacinto Correia C, Leal Pereira C, Correia D, Beleza Á, Ribeiro JM. Rodrigues A, et al. Among authors: beleza a. Acta Med Port. 2023 Jul 3;36(7-8):496-505. doi: 10.20344/amp.19475. Epub 2023 Jul 3. Acta Med Port. 2023. PMID: 37429589 Free article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: beleza a. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330 Free PMC article.
32 results