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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: antunes d. 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.
Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy.
Silva Cunha P, Antunes DO, Laranjo S, Coutinho A, Abecasis J, Oliveira MM. Silva Cunha P, et al. Among authors: antunes do. Front Cardiovasc Med. 2023 Jun 8;10:1149717. doi: 10.3389/fcvm.2023.1149717. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37363091 Free PMC article.
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