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个人简介
Professor Ingrid Scheffer has carried out seminal research at the boundaries of human molecular genetics, paediatrics and neurology to determine the genetic causes of epilepsy and related disorders. Her description of novel forms of epilepsy and identification of the genes underlying these disorders has allowed prevention in families, and led to significant advances in establishing a diagnosis, therapy, and in helping affected individuals and families minimise the severe handicap often associated with these diseases. Professor Scheffer has ensured that her research findings are translated into practical outcomes and are understood by the wider medical and lay communities.
研究兴趣
论文共 847 篇作者统计合作学者相似作者
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Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld, Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 96-118
Nicole Si Yan Liang,Gregory Costain, Alissa D'Gama,Amy McTague, Katherine Howell,Vann Chau, Sarah Mulhern,Annapurna Poduri,Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham,
Genetics in Medicine Open (2024): 101201
EPILEPSIAno. 2 (2024): 322-337
Brain communicationsno. 2 (2024): fcae056-fcae056
Zimeng Ye,Sufang Lin,Xia Zhao,Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu,Jing Duan,Yi Yao,Lin Li,Li Chen,Dezhi Cao,
Pediatric neurology (2024): 37-39
Lottie Morison, Milou Kennis, Elizabeth Palmer,Adam Vogel,Frederique Liegeois,Amanda Brignell, Siddarth Srivastava, Zoe Frazier,Di Milnes, Himanshu Goel,David Amor,Tjitske Kleefstra,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 453-454
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Translational Psychiatryno. 1 (2024): 1-9
Zimeng Ye,Sufang Lin,Xia Zhao,Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu,Jing Duan,Yi Yao,Lin Li,Li Chen,Dezhi Cao,
PEDIATRIC NEUROLOGY (2024): 37-39
Lottie D. Morison, Milou G. P. Kennis,Dmitrijs Rots,Arianne Bouman, Joost Kummeling,Elizabeth Palmer,Adam P. Vogel,Frederique Liegeois,Amanda Brignell,Siddharth Srivastava, Zoe Frazier,Di Milnes,
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