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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: unay b. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Sarıkaya Uzan G, Vural A, Yüksel D, Aksoy E, Öztoprak Ü, Canpolat M, Öztürk S, Yıldırım Ç, Güleç A, Per H, Gümüş H, Okuyaz Ç, Çobanoğulları Direk M, Kömür M, Ünalp A, Yılmaz Ü, Bektaş Ö, Teber S, Aliyeva N, Olgaç Dündar N, Gençpınar P, Gürkaş E, Keskin Yılmaz S, Kanmaz S, Tekgül H, Aksoy A, Öz Tuncer G, Acar Arslan E, Tosun A, Ayanoğlu M, Kızılırmak AB, Yousefi M, Bodur M, Ünay B, Hız Kurul S, Yiş U. Sarıkaya Uzan G, et al. Among authors: unay b. Pediatr Neurol. 2023 Aug;145:3-10. doi: 10.1016/j.pediatrneurol.2023.04.018. Epub 2023 May 4. Pediatr Neurol. 2023. PMID: 37245275
57 results