First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

por Ples, Liana, Sima, Romina-Marina, Nedelea, Florina, Moga, Marius
Publicado 2018

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type

por Dragoi, Vlad, Nedelea, Florina, Gica, Nicolae, Botezatu, Radu, Peltecu, Gheorghe, Panaitescu, Anca Maria
Publicado 2021

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

por Panaitescu, Anca Maria, Duta, Simona, Gica, Nicolae, Botezatu, Radu, Nedelea, Florina, Peltecu, Gheorghe, Veduta, Alina
Publicado 2021

Menke–Hennekam Syndrome: A Literature Review and a New Case Report

por Sima, Aurora, Smădeanu, Roxana Elena, Simionescu, Anca Angela, Nedelea, Florina, Vlad, Andreea-Maria, Becheanu, Cristina
Publicado 2022

Prenatal Genetic Testing for Dopa-Responsive Dystonia – Clinical Judgment in the Context of Next Generation Sequencing

por Nedelea, Florina, Veduta, Alina, Duta, Simona, Vayna, Ana-Maria, Panaitescu, Anca, Peltecu, Gheorghe, Duba, Hans-Christoph
Publicado 2018

Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation

por Cardos, Georgeta, Gica, Nicolae, Gica, Corina, Panaitescu, Anca Maria, Predescu, Mariana, Peltecu, Gheorghe, Nedelea, Florina Mihaela
Publicado 2022

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region

por Bouariu, Alexandra, Scutelnicu, Ana Maria, Ciobanu, Anca Marina, Cimpoca Raptis, Brîndușa Ana, Dumitru, Andreea Elena, Nedelea, Florina, Gică, Nicolae, Panaitescu, Anca Maria
Publicado 2021

Case report of a novel phenotype in 18q deletion syndrome

por Bohîlţea, Roxana Elena, Cîrstoiu, Monica Mihaela, Nedelea, Florina Mihaela, Turcan, Natalia, Georgescu, Tiberiu Augustin, Munteanu, Octavian, Baroş, Alexandru, Istrate-Ofiţeru, Anca-Maria, Berceanu, Costin
Publicado 2020