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Page 1
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: askander o. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: askander o. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
Coding-Complete Sequence of a SARS-CoV-2 Strain from an Omicron (B.1.1.529+BA.1) Variant Detected in Morocco.
Chouati T, Hemlali M, Melloul M, Alaoui-Amine S, Rhoulam S, Ghamaz H, Ouarab M, Askander O, Belayachi L, Touil N, El Mchichi B, Elannaz H, Laraqui A, Elouennass M, Ennibi K, El Fahime E. Chouati T, et al. Among authors: askander o. Microbiol Resour Announc. 2022 May 19;11(5):e0006322. doi: 10.1128/mra.00063-22. Epub 2022 Apr 14. Microbiol Resour Announc. 2022. PMID: 35420465 Free PMC article.
Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.
Bouhouche A, Tabache Y, Askander O, Charoute H, Mesnaoui N, Belayachi L, El Hafidi N, Hardizi H, El Fahime E, Erreimi N, Barakat A, Khattab M, Seghrouchni F, El Hassani A. Bouhouche A, et al. Among authors: askander o. Biomed Res Int. 2022 Mar 3;2022:1141280. doi: 10.1155/2022/1141280. eCollection 2022. Biomed Res Int. 2022. PMID: 35281597 Free PMC article.