Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

por Miclea, Diana, Osan, Sergiu, Bucerzan, Simona, Stefan, Delia, Popp, Radu, Mager, Monica, Puiu, Maria, Zimbru, Cristian, Chirita-Emandi, Adela, Alkhzouz, Camelia
Publicado 2022

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene

por Riza, Anca-Lelia, Alkhzouz, Camelia, Farcaș, Marius, Pîrvu, Andrei, Miclea, Diana, Mihuț, Gheorghe, Pleșea, Răzvan-Mihail, Ștefan, Delia, Drodar, Mihaela, Lazăr, Călin, Study, on behalf of the HINT, Study, on behalf of the FUSE, Ioana, Mihai, Popp, Radu
Publicado 2022

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

por Miclea, Diana, Szucs, Adriana, Mirea, Andreea, Stefan, Delia-Maria, Nazarie, Florina, Bucerzan, Simona, Lazea, Cecilia, Grama, Alina, Pop, Tudor Lucian, Farcas, Marius, Zaharie, Gabriela, Matyas, Melinda, Mager, Monica, Vintan, Mihaela, Popp, Radu, Alkhzouz, Camelia
Publicado 2021