日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

对罗马尼亚性发育差异患者进行分子和细胞遗传学分析

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

Genetic testing in pediatric endocrine pathology

儿科内分泌病理学中的基因检测

Miclea, Diana; Alkhzouz, Camelia; Bucerzan, Simona; Grigorescu-Sido, Paula

Diagnostic, treatment and outcome possibilities in achondroplasia

软骨发育不全的诊断、治疗和预后可能性

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

Cardiovascular manifestations in Marfan syndrome

马凡综合征的心血管表现

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

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

会议摘要:世界罕见病日:2020年2月27日,克卢日-纳波卡

Popa, Stefan L; Chiarioni, Giuseppe; David, Liliana; Golea, George I; Dumitrascu, Dan L; Bucerzan, Simona; Chiş, Bogdan; Dumitraşcu, Dan L; Grigorescu-Sido, Paula

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

戈谢病1型患者的骨保护素、雌激素、降钙素和维生素D受体基因变异及骨代谢血清标志物

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

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

45例特纳综合征患者的临床和遗传特征(单中心研究)

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

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

罗马尼亚II型粘多糖贮积症患者的临床和遗传特征

Alkhzouz, Camelia; Lazea, Cecilia; Bucerzan, Simona; Nascu, Ioana; Kiss, Eva; Denes, Carmencita Lucia; Grigorescu-Sido, Paula