Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Delia Ștefan"'
Autor:
Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana, Radu Popp
Publikováno v:
Genes, Vol 14, Iss 1, p 69 (2022)
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for
Externí odkaz:
https://doaj.org/article/dc8118aa06e442daab7f1e9d7d3d206f
Autor:
Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp, Monica Mager, Maria Puiu, Cristian Zimbru, Adela Chirita-Emandi, Camelia Alkhzouz
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved. The aim of this study was to determ
Externí odkaz:
https://doaj.org/article/bee18013fc23455d845c0666f2a8a93d