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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: tavares p. Front Genet. 2019 Feb 22;10:58. doi: 10.3389/fgene.2019.00058. eCollection 2019. Front Genet. 2019. PMID: 30853971 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: tavares p. 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.
Comparison between CVS and early amniocentesis.
Tavares P, Tavares A, Rendeiro P, Palmares C. Tavares P, et al. Among authors: tavares a. Prenat Diagn. 1998 Jan;18(1):87. doi: 10.1002/(sici)1097-0223(199801)18:1<87::aid-pd228>3.0.co;2-s. Prenat Diagn. 1998. PMID: 9483647 No abstract available.
397 results