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

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach

利用三重全外显子组测序方法研究智力发育障碍的遗传病因

Gorker, Isik; Atlı, Engin; Bozatlı, Leyla; Demir, Selma; Yalcıntepe, Sinem; Atlı, Emine Ikbal; Kosukcu, Can; Gurkan, Hakan

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia

科斯特洛综合征患者的高胰岛素血症性低血糖:低血糖症病因学研究

Vuralli, Dogus; Kosukcu, Can; Taskiran, Ekim; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Boduroglu, Koray; Alikasifoglu, Ayfer; Alikasifoglu, Mehmet

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD

ANKS6 突变导致 ESRD 出现肾痨样表型

Ekim Z Taskiran, Emine Korkmaz, Safak Gucer, Can Kosukcu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloglu, Franz Schaefer, Massimo Attanasio, Carsten Bergmann, Fatih Ozaltin