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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 391 篇作者统计合作学者相似作者
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Nephrology Dialysis Transplantationno. Supplement_1 (2024)
Detlef Bockenhauer, Olivia Boyer
Acta paediatrica (Oslo, Norway : 1992)no. 8 (2024): 1746-1747
Justin G. Wu, Chandana Guha, Anastasia Hughes, Luca G. Torrisi,Jonathan C. Craig,Aditi Sinha,Allison Dart,Allison A. Eddy,Detlef Bockenhauer, Hui-Kim Yap, Jaap Groothoff, Stephen I. Alexander,
American Journal of Kidney Diseases (2024)
Pediatric nephrology (2024)
Journal of Clinical Investigation (2024)
Pediatric nephrology (Berlin, Germany)no. 10 (2024): 2911-2913
LANCETno. 10433 (2024): 1279-1289
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)
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作者统计
#Papers: 383
#Citation: 12424
H-Index: 56
G-Index: 103
Sociability: 8
Diversity: 0
Activity: 5
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