Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

by Ana Rita Soares, Gabriela Soares, Manuela Mota-Freitas, Natália Oliva-Teles, Ana Maria Fortuna
Published 2019-08-01

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

by Paula Jorge, Maria Manuela Mota-Freitas, Rosário Santos, Maria Luz Silva, Gabriela Soares, Ana Maria Fortuna
Published 2014-07-01

3P DELETION SYNDROME AND CONGENITAL HEART DISEASE: CASE REPORT

by Sílvia Pires, Natália Oliva-Teles, Manuela Mota Freitas, Dulce Oliveira, Maria do Céu Rodrigues, Sílvia Álvares, M Fonseca Silva
Published 2016-12-01

INTERSTITIAL DELETION 8P23.1 -8P23.2 – A CASE REPORT OF A POSTNATAL DIAGNOSIS

by Vânia Ferreira, Raquel Maciel, João Casanova, Sílvia Álvares, Natália Oliva Teles, Manuela Mota Freitas, Maria do Céu Rodrigues, Maria José Mendes
Published 2017-01-01

SÍNDROME DE POTOCKI-LUPSKI: MICRODUPLICAÇÃO 17P11.2 E ANOMALIAS CARDÍACAS

by Elisa Lopes, Sílvia Pires, Cristina Candeias, Natália Oliva-Teles, Manuela Mota Freitas, Nataliya Tkachenko, Gabriela Soares, Marília Loureiro, M Fonseca Silva
Published 2016-12-01

SÍNDROME DE DIGEORGE/VELOCARDIOFACIAL: RESULTADOS DO LABORATÓRIO DE CITOGENÉTICA DO CGMJM POR TÉCNICAS DE FISH E MLPA

by Manuela Mota Freitas, Cristina Candeias, Elisa Lopes, M Céu Ribeiro, F Paula Oliveira, Sílvia Pires, Natália Oliva-Teles, M Luz Fonseca Silva
Published 2016-12-01