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2008 3
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60 results

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Page 1
[Hermansky-Pudlak syndrome].
Atili A, Lübke J, Shoukier M, Schittkowski MP. Atili A, et al. Among authors: shoukier m. Ophthalmologe. 2013 Feb;110(2):160-3. doi: 10.1007/s00347-012-2621-0. Ophthalmologe. 2013. PMID: 22806537 German.
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
Bertino F, Mukherjee D, Bonora M, Bagowski C, Nardelli J, Metani L, Zanin Venturini DI, Chianese D, Santander N, Salaroglio IC, Hentschel A, Quarta E, Genova T, McKinney AA, Allocco AL, Fiorito V, Petrillo S, Ammirata G, De Giorgio F, Dennis E, Allington G, Maier F, Shoukier M, Gloning KP, Munaron L, Mussano F, Salsano E, Pareyson D, di Rocco M, Altruda F, Panagiotakos G, Kahle KT, Gressens P, Riganti C, Pinton PP, Roos A, Arnold T, Tolosano E, Chiabrando D. Bertino F, et al. Among authors: shoukier m. Cell Rep Med. 2024 Jul 16;5(7):101647. doi: 10.1016/j.xcrm.2024.101647. Cell Rep Med. 2024. PMID: 39019006 Free PMC article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M, Shervin Badv R, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler KE, Kershaw CJ, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: shoukier m. Brain. 2025 Apr 3;148(4):1194-1211. doi: 10.1093/brain/awae363. Brain. 2025. PMID: 39692517 Free PMC article.
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P, Fabritz L, Hellenbroich Y, Woitschach R, Magnussen C. Keil L, et al. Among authors: shoukier m. Genes (Basel). 2022 Jan 19;13(2):169. doi: 10.3390/genes13020169. Genes (Basel). 2022. PMID: 35205214 Free PMC article.
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Holmes TD, Pandey RV, Helm EY, Schlums H, Han H, Campbell TM, Drashansky TT, Chiang S, Wu CY, Tao C, Shoukier M, Tolosa E, Von Hardenberg S, Sun M, Klemann C, Marsh RA, Lau CM, Lin Y, Sun JC, Månsson R, Cichocki F, Avram D, Bryceson YT. Holmes TD, et al. Among authors: shoukier m. Sci Immunol. 2021 Mar 12;6(57):eabc9801. doi: 10.1126/sciimmunol.abc9801. Sci Immunol. 2021. PMID: 33712472 Free PMC article.
60 results