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Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.
Sousa I, Abrantes P, Francisco V, Teixeira G, Monteiro M, Neves J, Norte A, Robalo Cordeiro C, Moura E Sá J, Reis E, Santos P, Oliveira M, Sousa S, Fradinho M, Malheiro F, Negrão L, Feijó S, Oliveira SA. Sousa I, et al. Among authors: sousa s. PLoS One. 2016 May 20;11(5):e0156103. doi: 10.1371/journal.pone.0156103. eCollection 2016. PLoS One. 2016. PMID: 27203581 Free PMC article.
Genomic imbalances defining novel intellectual disability associated loci.
Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, Rocha M, Sá J, Oliveira G, Sá MJ, Temudo T, Sousa S, Marques C, Lopes S, Gomes C, Barros G, Jorge A, Rocha F, Martins C, Mesquita S, Loureiro S, Cardoso EM, Cálix MJ, Dias A, Martins C, Mota CR, Antunes D, Dupont J, Figueiredo S, Figueiroa S, Gama-de-Sousa S, Cruz S, Sampaio A, Eijk P, Weiss MM, Ylstra B, Rendeiro P, Tavares P, Reis-Lima M, Pinto-Basto J, Fortuna AM, Maciel P. Lopes F, et al. Among authors: sousa s. Orphanet J Rare Dis. 2019 Jul 5;14(1):164. doi: 10.1186/s13023-019-1135-0. Orphanet J Rare Dis. 2019. PMID: 31277718 Free PMC article.
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.
Lopes F, Torres F, Soares G, van Karnebeek CD, Martins C, Antunes D, Silva J, Muttucomaroe L, Botelho LF, Sousa S, Rendeiro P, Tavares P, Van Esch H, Rajcan-Separovic E, Maciel P. Lopes F, et al. Among authors: sousa s. Front Genet. 2019 Feb 22;10:58. doi: 10.3389/fgene.2019.00058. eCollection 2019. Front Genet. 2019. PMID: 30853971 Free PMC article.
Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.
Vieira JP, Lopes F, Silva-Fernandes A, Sousa MV, Moura S, Sousa S, Costa BM, Barbosa M, Ylstra B, Temudo T, Lourenço T, Maciel P. Vieira JP, et al. Among authors: sousa mv, sousa s. Int J Dev Neurosci. 2015 Nov;46:82-7. doi: 10.1016/j.ijdevneu.2015.07.010. Epub 2015 Aug 10. Int J Dev Neurosci. 2015. PMID: 26287660
[Renal glycosuria: report of two cases].
Rebelo JC, Rocha F, Sousa SG, Teixeira P. Rebelo JC, et al. J Bras Nefrol. 2012 Jul-Sep;34(3):291-2. doi: 10.5935/0101-2800.20120013. J Bras Nefrol. 2012. PMID: 23099837 Free article. Portuguese.
Diagnostic and therapeutic approach of central sleep apnea in heart failure - the role of adaptive servo-ventilation. A statement of the Portuguese society of pulmonology and the Portuguese sleep association.
Correia S, Sousa S, Drummond M, Pinto P, Staats R, Brito D, Lousada N, Cardoso JS, Moita J. Correia S, et al. Among authors: sousa s. Pulmonology. 2023 Mar-Apr;29(2):138-143. doi: 10.1016/j.pulmoe.2021.12.002. Epub 2022 Apr 29. Pulmonology. 2023. PMID: 35501278 Free article. Clinical Trial.
1,280 results