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American Journal of Medical Genetics. Part A|May 18, 2021
Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcomeCarla Fernandes, Alexandra Paúl, Maria Margarida Venâncio, et al.
Annals of Pediatric Endocrinology & Metabolism|January 7, 2020
Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literatureMafalda Cascais, Ester Pereira, Alexandra Vieira, et al.
Journal of Genetic Counseling|January 29, 2013
Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafnessFidjy Rodrigues, Milena Paneque, Cláudia Reis, et al.
European Journal of Human Genetics : EJHG|April 19, 2007
An explanation for another familial case of Rett syndrome: maternal germline mosaicismMargarida Venâncio, Mónica Santos, Susana Aires Pereira, et al.
Prenatal Diagnosis|April 26, 2005
Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangementAntónio Pires, Lina Ramos, Margarida Venâncio, et al.
Anais Brasileiros De Dermatologia|January 19, 2017
Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicismMiguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, et al.
Molecular Cytogenetics|May 4, 2012
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome regionSusana Isabel Ferreira, Eunice Matoso, Margarida Venâncio, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
12q21.2q22 deletion: a new patientRenata Oliveira, Cristina Pereira, Joana B Melo, et al.
European Journal of Medical Genetics|January 29, 2024
Pachydysostosis of the fibula in a case of familial adenomatous polyposisDaniela Oliveira, Sofia Maia, Inês Balacó, et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology|June 10, 2014
Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonanceFrancisca Caetano, Ana Botelho, Joana Trigo, et al.
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