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A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.
Lloveras E, Canellas A, Barranco L, Alves C, Vila-Real M, Ventura V, Fernández D, Mendez B, Piqué M, Reis-Lima M, de la Iglesia C, Palau N, Costa M, Yeste D, Auge M, Perez C. Lloveras E, et al. Among authors: reis lima m. Cytogenet Genome Res. 2019;159(3):126-129. doi: 10.1159/000504424. Epub 2019 Dec 13. Cytogenet Genome Res. 2019. PMID: 31830750
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: reis lima m. 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.
[Osteopathia striata with cranial sclerosis].
Barbosa M, Perdu B, Senra V, Macedo F, Van Hul W, Reis-Lima M, Pinto-Basto J. Barbosa M, et al. Among authors: reis lima m. Acta Med Port. 2010 Nov-Dec;23(6):1147-50. Epub 2010 Dec 28. Acta Med Port. 2010. PMID: 21627892 Free article. Portuguese.
15 results