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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 850 篇作者统计合作学者相似作者
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AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 96-118
Mario Nappi, Giulio Alberini,Alessandro Berselli, Agnese Roscioni, Maria Virginia Soldovieri,Vincenzo Barrese, Sarah Weckhuysen, Ting-Gee Annie Chiu,Ingrid E. Scheffer, Fabio Benfenati,Luca Maragliano, Francesco Miceli,
crossref(2024)
Cristiana Mattei, Miaomiao Mao, Sean Byars, Erlina Mohamed Syazwan, Megan Oliva, Timothy Karle, Kay Richards,Ingrid Scheffer, Steven Petrou,Snezana Maljevic
crossref(2024)
Neurology. Geneticsno. 2 (2024): e200129-e200129
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
Bart van der Sanden,Kornelia Neveling, Syukri Shukor, Michael D Gallagher,Joyce Lee, Stephanie L Burke,Maartje Pennings,Ronald van Beek,Michiel Oorsprong,Ellen Kater-Baats,Eveline Kamping, Alide Tieleman,
crossref(2024)
EPILEPSIAno. 2 (2024): 322-337
Daniz Kooshavar,David J. Amor,Kirsten Boggs, Naomi Baker,Christopher Barnett,Michelle G. de Silva,Samantha Edwards,Michael C. Fahey, Justine E. Marum, Penny Snell,Kiymet Bozaoglu,Kate Pope,
BRAIN COMMUNICATIONSno. 2 (2024): fcae056-fcae056
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