Clinical and Neurogenetic Characterisation of Autosomal Recessive RBL2-associated Progressive Neurodevelopmental Disorder
Gabriel Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamenta,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri,Emmanuel Roze, Mohammed Aguennouz,Zouiri Ghizlane,Saadia Maryam Saadi,Zafar Ali,Uzma Abdulllah,Huma Arshad Cheema,Muhammad Nadeem Anjum,Godelieve Morel,Robert McFarland,Umut Altunoglu,Verena Kraus,Moneef Shoukier,David Murphy, Kristina Flemming,Hilde Yttervik,Hajar Rhouda,Gaetan Lesca,Bibi Nazia Murtaza,Mujaddad Ur Rehman,SYNAPS Study Group, Genomics England Consortium,Go Hun Seo,Christian Beetz,Hülya Kayserili, Yamna Krioulie,Wendy K Chung,Sadaf Naz,Shazia Maqbool,Joseph Gleeson,Shahid Mahmood Baig,Stephanie Efthymiou,Jenny C Taylor,Mariasavina Severino,James Ec Jepson,Henry Houlden medRxiv the preprint server for health sciences（2024）
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