A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

por Zimmermann, Anca, Rossmann, Heidi, Bucerzan, Simona, Grigorescu-Sido, Paula
Publicado 2016

Genetic testing in pediatric endocrine pathology

por Miclea, Diana, Alkhzouz, Camelia, Bucerzan, Simona, Grigorescu-Sido, Paula
Publicado 2021

Abstracts of the Conference: The Day of the Rare Diseases: 27 February 2020, Cluj-Napoca

por Bucerzan, Simona, Chiş, Bogdan, Dumitraşcu, Dan L., Grigorescu-Sido, Paula
Publicado 2020

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

por Bucerzan, Simona, Miclea, Diana, Lazea, Cecilia, Asavoaie, Carmen, Kulcsar, Andrea, Grigorescu-Sido, Paula
Publicado 2020

Osteoarthropathy in mucopolysaccharidosis type II

por NASCU, IOANA, GRIGORESCU-SIDO, PAULA, AL-KHZOUZ, CAMELIA, BUCERZAN, SIMONA, DENES, CARMENCITA, LAZEA, CECILIA
Publicado 2013

Diagnostic, treatment and outcome possibilities in achondroplasia

por Bucerzan, Simona, Alkhzouz, Camelia, Crisan, Mirela, Miclea, Diana, Asavoaie, Carmen, Ilies, Roxana, Grigorescu-Sido, Paula
Publicado 2021

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

por Bucerzan, Simona, Miclea, Diana, Popp, Radu, Alkhzouz, Camelia, Lazea, Cecilia, Pop, Ioan Victor, Grigorescu-Sido, Paula
Publicado 2017

Cardiovascular manifestations in Marfan syndrome

por Lazea, Cecilia, Bucerzan, Simona, Crisan, Mirela, Al-Khzouz, Camelia, Miclea, Diana, Şufană, Crina, Cismaru, Gabriel, Grigorescu-Sido, Paula
Publicado 2021

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1

por Zimmermann, Anca, Popp, Radu A, Rossmann, Heidi, Bucerzan, Simona, Nascu, Ioana, Leucuta, Daniel, Weber, Matthias M, Grigorescu-Sido, Paula
Publicado 2018

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development

por Miclea, Diana, Alkhzouz, Camelia, Bucerzan, Simona, Grigorescu-Sido, Paula, Popp, Radu Anghel, Pascanu, Ionela Maria, Cret, Victoria, Ghervan, Cristina, Blaga, Ligia, Zaharie, Gabriela
Publicado 2021

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

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