Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Aughey, Gabriel; Cali, Elisa; Maroofian, Reza; Zaki, Maha; Pagnamenta, Alistair; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia; Fatima, Ambrin; Cheema, Huma; Anjum, Muhammad; Morel, Godelieve; Robin, Stephanie; Mcfarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Badv, Reza; Seo, Go; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate; Kershaw, Christopher; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph; Taylor, Jenny; Efthymiou, Stephanie; Baig, Shahid; Severino, Mariasavina; Jepson, James; Houlden, Henry; Bello, Abiodun; Iyagba, Alagoma; Macaya Ruiz, Alfons; Nabil, Amira; Gevorgyan, Ani; Muhammad, Anees; Pérez-Dueñas, Belen; Monteagudo Sanchez, Benigno; Sukhudyan, Biayna; Marinova Karashova, Blagovesta; Sanlidag, Burcin; Scuderi, Carmela; Shashkin, Chingiz; Spanaki, Cleanthe; Dardiotis, Efthymios; Torti, Erin; Nwazor, Ernest; Afzal, Erum; Borgione, Eugenia; Shaikh, Farooq; Al-Mutairi, Fuad; Di Rosa, Gabriella; Heimer, Gali; Xiromerisiou, Georgia; Melikishvili, Gia; Morello, Giovanna; Kathom, Hadil; Per, HÜSEYİN; Tomoum, Hoda; Javed, Iram; Al-Khawaja, Issam; Koneyev, Kairgali; Salayev, Kamran; Moodley, Kaminie; Senkevich, Konstantin; Arning, Larissa; Fidani, Liana; Taiwo, Lolade; Beridze, Maia; Ganieva, Manizha; Isayan, Mariam; Kekenadze, Mariam; García-Silva, Mayte; Vikelis, Michail; Tabatadze, Nazi; Zharkynbekova, Nazira; Noureen Rana, Nuzhat; Oguntunde, Olapeju; Ekenze, Oluchi; Ojo, Oluwadamilola; Atawneh, Osama; Nicolaides, Paola; Kazadi, Prince; Kaiyrzhanov, Rauan; Maroofian, Reza; Boles, Richard; Ibadova, Rima; Savasta, Salvatore; Khachatryan, Samson; Portaro, Simona; Efthymiou, Stephanie; Guliyeva, Sughra; Stojkovic, Tanya; Williams, Uduak; Guliyeva, Ulviyya; Salpietro, Vincenzo; Chelban, Viorica; Nachbauer, Wolfgang; Obiabo, Yahaya; Tavadyan, Zaruhi; Zholdasova, Zhibek; Sardar, Zomer; Al-Ajmi, Abdullah; Verrotti, Alberto; Van Den Maagdenberg, Arn; Garavaglia, Barbara; Cormand, Bru; Timmann, Dagmar; Avdjieva, Daniela; Zamba Papanicolaou, Eleni; Alkuraya, Fowzan; Silvestri, Gabriella; Koutsis, George; Marseglia, Giangluigi; Önemli Mungan, Halise; Goraya, Jatinder; Mine, Jun; Wahab, Kolawole; Zollo, Massimo; Pineda-Marfa, Mercedes; Aguennouz, Mhammed; Ferrari, Michel; Abd El Hamed, Mohamed; El Khorassani, Mohamed; Komolafe, Morenikeji; Okubadejo, Njideka; Striano, Pasquale; Veggiotti, Pierangelo; Tincheva, Radka; Kirmani, Salman; Mangano, Salvatore; Abubakar, Sanni; Papacostas, Savvas; Banu, Selina; Ibrahim, Shahnaz; Maqbool, Shazia; Lim, Shen-Yang; Ahmed Hamed, Sherifa; Groppa, Stanislav; Boesch, Sylvia; Sultan, Tipu; Dauvilliers, Yves; Zhumakhanov, Dauren

doi:10.1093/brain/awae363

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Aughey G. N., Cali E., Maroofian R., Zaki M. S., Pagnamenta A. T., Ali Z., ...Daha Fazla

Brain : a journal of neurology, 2024 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası:
Basım Tarihi: 2024
Doi Numarası: 10.1093/brain/awae363
Dergi Adı: Brain : a journal of neurology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Applied Science & Technology Source, BIOSIS, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MLA - Modern Language Association Database, Psycinfo, Nature Index
Erciyes Üniversitesi Adresli: Evet