檢索結果 - Hagit Flusser
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A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant 由 Matan M. Jean, Anan Yunis, Tzofit Elbaz-Biton, Vadim Dolgin, Ginat Narkis, Analia Michaelovsky, Marina Eskin-Schwartz, Alexandra A. Tsitrina, Nadav Agam, Tomer Poleg, Amit Safran, Ofek Freund, Noam Hadar, Dan Levy, Ilan Shelef, Khalil El Amour, Hagit Flusser, Ohad S. Birk
發表在 npj Genomic Medicine (2025-10-01)獲取全文
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