Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

by Eva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu
Published 2021-08-01

Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review

by Irina Resmerita, Romica Sebastian Cozma, Roxana Popescu, Luminita Mihaela Radulescu, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Lavinia Caba, Ovidiu-Dumitru Ilie, Eva-Cristiana Gavril, Eusebiu Vlad Gorduza, Cristina Rusu
Published 2020-12-01

Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

by Aurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Monica Cristina Panzaru, Sorina Mihaela Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu
Published 2021-05-01

Novel Mutation in <i>APC</i> Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

by Cristina Antohi, Danisia Haba, Lavinia Caba, Mihai Liviu Ciofu, Vasile-Liviu Drug, Oana-Bogdana Bărboi, Bogdan Ionuț Dobrovăț, Monica-Cristina Pânzaru, Nicoleta Carmen Gorduza, Vasile Valeriu Lupu, Doina Dimofte, Cristina Gug, Eusebiu Vlad Gorduza
Published 2021-08-01