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Page 1
Left Ventricular Hypertrophy: One Phenotype, Two Hypotheses, Three Lessons.
Rodrigues P, Soares AR, Taipa R, Ferreira S, Reis H. Rodrigues P, et al. Among authors: soares ar. Arq Bras Cardiol. 2021 Nov;117(5):1056-1059. doi: 10.36660/abc.20210103. Arq Bras Cardiol. 2021. PMID: 34817018 Free PMC article. English, Portuguese. No abstract available.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M. Rossignol F, et al. Among authors: soares ar. Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26. Genet Med. 2021. PMID: 34040193 Free PMC article.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Da Silva JD, Pereira Â, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Soares CA, Nunes IS, Fortuna AM, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Da Silva JD, et al. Among authors: soares ca, soares ar. Pediatr Res. 2024 Jul;96(2):365-371. doi: 10.1038/s41390-023-02943-1. Epub 2023 Dec 5. Pediatr Res. 2024. PMID: 38052860
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: soares ar. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: soares ar. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343
179 results