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个人简介
I have been working for twenty-one years in the research field of Human and Medical Genetics applied to rare diseases and I have spent my entire career at the Telethon Institute of Genetics and Medicine (TIGEM) in Naples. During my Ph.D. I was involved in the identification of genes responsible for X-linked disorders. I then shifted my scientific interests towards functional studies involving both in vitro and in vivo (mouse) approaches. I completed my professional education with a
residency in Medical Genetics. Over the last 3 years I was involved in the Telethon Undiagnosed Diseases Project. I obtained the Italian National Scientific Habilitation for Associate Professor in Medical Genetics (MED/03), Molecular Biology (BIO/11) and Applied Biology (BIO/13).
研究兴趣
论文共 55 篇作者统计合作学者相似作者
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EUROPEAN JOURNAL OF HUMAN GENETICSpp.1-7, (2024)
Lab animalno. 7 (2024): 161-165
Amy G. Jones, Matilde Aquilino,Rory J. Tinker,Laura Duncan,Zandra Jenkins,Gemma L. Carvill, Stephanie J. DeWard,Dorothy K. Grange, MJ Hajianpour,Benjamin J. Halliday,Muriel Holder-Espinasse, Judit Horvath,
The American Journal of Human Geneticsno. 4 (2024): 729-741
JOURNAL OF CLINICAL INVESTIGATIONno. 1 (2024)
Genetics in Medicine Openno. 1 (2023): 100188-100188
GENESno. 9 (2023): 1664-1664
Charlotte Gehin,Museer A Lone,Winston Lee,Laura Capolupo,Sylvia Ho, Adekemi M Adeyemi,Erica H Gerkes,Alexander Pa Stegmann,Estrella López-Martín,Eva Bermejo-Sánchez,Beatriz Martínez-Delgado, Christiane Zweier,
The Journal of clinical investigationno. 10 (2023)
Kari A Mattison,Gilles Tossing,Fred Mulroe, Callum Simmons,Kameryn M Butler, Alison Schreiber,Adnan Alsadah,Derek E Neilson,Karin Naess,Anna Wedell,Anna Wredenberg,Arthur Sorlin,
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