Clinical and Genetic Characterization of a Progressive RBL2-associated Neurodevelopmental Disorder.
Gabriel N Aughey,Elisa Cali,Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Zafar Ali,Uzma Abdulllah,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri, Emmanuel Roze, Mohammed Aguennouz,Zouiri Ghizlane,Saadia Maryam Saadi,Ambrin Fatima,Huma Arshad Cheema,Muhammad Nadeem Anjum,Godelieve Morel, Stephanie Robin, Robert McFarland,Umut Altunoglu,Verena Kraus,Moneef Shoukier,David Murphy, Kristina Flemming,Hilde Yttervik,Hajar Rhouda,Gaetan Lesca,Nicolas Chatron,Massimiliano Rossi,Bibi Nazia Murtaza,Mujaddad Ur Rehman, Jenny Lord, Edoardo Giacopuzzi,Azam Hayat, Muhammad Siraj,SYNAPS Study Group, Reza Shervin Badv,Go Hun Seo,Christian Beetz,Hülya Kayserili, Yamna Krioulie, Wendy K Chung,Sadaf Naz,Shazia Maqbool,Kate Chandler, Christopher Kershaw,Thomas Wright,Siddharth Banka,Joseph G Gleeson, Jenny C Taylor,Stephanie Efthymiou,Shahid Mahmood Baig,Mariasavina Severino,James E C Jepson,Henry Houlden Brain a journal of neurology（2024）
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