Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

by Melinda Matyas, Diana Miclea, Gabriela Zaharie
Published 2021-07-01

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literatur...

by Simona Bucerzan, Simona Bucerzan, Diana Miclea, Diana Miclea, Cecilia Lazea, Cecilia Lazea, Carmen Asavoaie, Andrea Kulcsar, Paula Grigorescu-Sido
Published 2020-07-01

46,XX DSD: Developmental, Clinical and Genetic Aspects

by Camelia Alkhzouz, Simona Bucerzan, Maria Miclaus, Andreea-Manuela Mirea, Diana Miclea
Published 2021-07-01

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

by Cecilia Lazea, Simona Bucerzan, Camelia Al-Khzouz, Anca Zimmermann, Ștefan Cristian Vesa, Ioana Nașcu, Victoria Creț, Mirela Crișan, Carmen Asăvoaie, Diana Miclea, Paula Grigorescu-Sido
Published 2021-05-01

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

by Adela Chirita Emandi, Adela Chirita Emandi, Andreea Iulia Dobrescu, Andreea Iulia Dobrescu, Gabriela Doros, Gabriela Doros, Capucine Hyon, Capucine Hyon, Capucine Hyon, Diana Miclea, Calin Popoiu, Calin Popoiu, Maria Puiu, Maria Puiu, Smaranda Arghirescu, Smaranda Arghirescu
Published 2019-07-01