基本信息
浏览量:80
职业迁徙
个人简介
As a clinician-scientist, I pursue both clinicaland laboratory investigations to achieve these aims. My current research istypically prompted by novel clinical observations, the basis of which is theninvestigated in the laboratory.
I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.
I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.
I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.
I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.
研究兴趣
论文共 414 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Melanie Chan,Omid Sadeghi-Alavijeh,Horia Stanescu, Catalin Voinescu, Loes van der Zanden, Sander Groen In't Woud,Wout Feitz, Lisanne Vendrig,Rik Westland,Detlef Bockenhauer,Adam Levine,Daniel P Gale
Nephrology Dialysis Transplantationno. Supplement_1 (2024)
Acta paediatrica (Oslo, Norway : 1992) (2024)
Pediatric Nephrologypp.1-3, (2024)
Omid Sadeghi-Alavijeh,Melanie MY Chan, Gabriel Doctor, Catalin D Voinescu,Alexander Stuckey,Athanasios Kousathanas, Alexander Ho, Genomics England Research Consortium,Horia C Stanescu,Detlef Bockenhauer,Richard N Sandford,Adam P Levine,
medrxiv(2024)
Pediatric Nephrologypp.1-3, (2024)
Omid Sadeghi-Alavijeh, Melanie MY Chan, Gabriel Doctor, Catalin Voinescu,Alex Stuckey,Athanasios Kousathanas, Alexander Ho, Genomics England Research Consortium,Horia Stanescu,Horia Stanescu,Detlef Bockenhauer,Richard Sandford,
medrxiv(2024)
Bénédicte Buffin-Meyer, Juliette Richard,Vincent Guigonis, Stefanie Weber,Jens König,Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu,Stanislas Faguer,Audrey Casemayou, Richa Prakash,Véronique Baudouin,
Kidney International Reports (2024)
The New England journal of medicineno. 20 (2024): 1922-1924
Jing Yu,Alistair Pagnamenta,Susan Walker,Benito Banos-Pinero, Mark Rogers,Jackie Cook,Mohamed Wafik, Ellie Hay,Detlef Bockenhauer,Adam Jackson,Emma Clement,Louise Wilson,
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 56-57
引用0浏览0引用
0
0
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn