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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 407 篇作者统计合作学者相似作者
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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)
Cătălin D Voinescu,Monika Mozere,Giulio Genovese, Mallory L Downie,Sanjana Gupta,Daniel P Gale,Detlef Bockenhauer,Robert Kleta,Mauricio Arcos-Burgos,Horia C Stanescu
Kidney internationalno. 4 (2024): 791-798
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
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Kidney International Reportsno. 2 (2023): 215-228
Nephrology Dialysis Transplantationno. Supplement_1 (2023): I4-I4
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Emma Yi Xiu Walker, Timothy Alexander James Lindsay,Jeremy Allgrove,Matko Marlais,Detlef Bockenhauer,Wesley Hayes
Journal of Pediatric Endocrinology and Metabolismno. 9 (2023): 895-899
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BRITISH JOURNAL OF SURGERYno. Supplement_3 (2023): III31-III31
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