Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review

por Jurca, Claudia Maria, Iuhas, Oana, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Bembea, Marius, Jurca, Sanziana, Paul, Corina, Jurca, Alexandru Daniel
Publicado 2022

Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways—Case Report and Literature Review

por Jurca, Claudia Maria, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Magyar, Ioan, Munteanu, Mihai, Faur, Lucian, Jurca, Aurora, Bembea, Dan, Severin, Emilia, Jurca, Alexandru Daniel
Publicado 2023

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

por Iuhas, Alin, Jurca, Claudia, Kozma, Kinga, Riza, Anca-Lelia, Streață, Ioana, Petcheși, Codruța, Dan, Andra, Sava, Cristian, Balmoș, Andreea, Marinău, Cristian, Niulaș, Larisa, Ioana, Mihai, Bembea, Marius
Publicado 2023

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

por Kozma, Kinga, Bembea, Marius, Jurca, Claudia M., Ioana, Mihai, Streață, Ioana, Şoşoi, Simona Ş., Pirvu, Andrei, Petchesi, Codruța D., Szilágyi, Ariana, Sava, Cristian N., Jurca, Alexandru, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Szakszon, Katalin
Publicado 2021

Genetics of congenital solid tumors

por Jurcă, Maria Claudia, Ivaşcu, Marius Evelin, Jurcă, Aurora Alexandra, Kozma, Kinga, Magyar, Ioan, Şandor, Mircea Ioan, Jurcă, Alexandru Daniel, Zaha, Dana Carmen, Albu, Cristina-Crenguţa, Pantiş, Carmen, Bembea, Marius, Petcheşi, Codruţa Diana
Publicado 2020

Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature

por Jurcă, Maria Claudia, Iuhas, Oana Alexandra, Puiu, Maria, Chiriţă-Emandi, Adela, Andreescu, Nicoleta Ioana, Petcheşi, Codruţa Diana, Jurcă, Alexandru Daniel, Magyar, Ioan, Jurcă, Sânziana Iulia, Kozma, Kinga, Severin, Emilia Maria, Bembea, Marius
Publicado 2021