Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

por Shelby, Elena-Silvia, Morris, Michael, Pădure, Liliana, Mirea, Andrada, Cocoș, Relu, Cărămizaru, Alexandru, Șerban-Sosoi, Simona, Pîrvu, Andrei, Streață, Ioana
Publicado 2022

Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report

por Burada, Florin, Streata, Ioana, Ungureanu, Anda, Ruican, Dan, Nagy, Rodica, Serban-Sosoi, Simona, Stambouli, Danai, Dimos, Luiza, Popescu-Hobeanu, Gabriela, Mihai, Ioana, Iliescu, Dominic
Publicado 2021

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

por Budisteanu, Magdalena, Papuc, Sorina Mihaela, Streata, Ioana, Cucu, Mihai, Pirvu, Andrei, Serban-Sosoi, Simona, Erbescu, Alina, Andrei, Emanuela, Iliescu, Catrinel, Ioana, Doina, Severin, Emilia, Ioana, Mihai, Arghir, Aurora
Publicado 2021

Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort

por Streață, Ioana, Caramizaru, Alexandru, Riza, Anca-Lelia, Șerban-Sosoi, Simona, Pîrvu, Andrei, Cara, Monica-Laura, Cucu, Mihai-Gabriel, Dobrescu, Amelia Mihaela, Shelby, Elena-Silvia, Albeanu, Adriana, Burada, Florin, Ioana, Mihai
Publicado 2022