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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium; Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Olbrich H, et al. Among authors: al turki s. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022101 Free PMC article.
Consensus Recommendations for the Diagnosis, Biomarker Testing, and Clinical Management of Advanced or Metastatic Non-small Cell Lung Cancer With Mesenchymal-Epithelial Transition Exon 14 Skipping Mutations in the Middle East, Africa, and Russia.
Mahrous M, Omar Jebriel A, Allehebi A, Shafik A, El Karak F, Venturini F, Alhusaini H, Meergans M, Ali Nahit Sendur M, Ouda M, Al-Nassar M, Kilickap S, Al Turki S, Al-Fayea T, Abdel Kader Y. Mahrous M, et al. Among authors: al turki s. Cureus. 2023 Jul 17;15(7):e41992. doi: 10.7759/cureus.41992. eCollection 2023 Jul. Cureus. 2023. PMID: 37492039 Free PMC article. Review.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.
Alzahrani M, Al Turki S, Al Rajban W, Alshalati F, Almodaihsh F, Abuelgasim KA, Alahmari B, Al Bogami T, Ali O, Al Harbi T, AlBalwi MA, Alotaibi M, Aleem A, Al Asker A, Al Mugairi A. Alzahrani M, et al. Among authors: al turki s. Platelets. 2022 Nov 17;33(8):1220-1227. doi: 10.1080/09537104.2022.2091773. Epub 2022 Jul 5. Platelets. 2022. PMID: 35791502
Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.
Albuali WH, AlGhamdi AA, Aldossary SJ, AlHarbi SA, Al Majed SI, Alenizi A, Al-Qahtani MH, Lardhi AA, Al-Turki SA, AlSanea AS, Bubshait DK, Kobeisy SA, Herzallah NH, Alqarni WA, AlHarbi AH, Albuali HW, Aldossary BJ, AlQurashi FO, Yousef AA. Albuali WH, et al. Among authors: al turki sa. BMJ Open. 2022 Mar 11;12(3):e053722. doi: 10.1136/bmjopen-2021-053722. BMJ Open. 2022. PMID: 35277403 Free PMC article.
The genomic history of the Middle East.
Almarri MA, Haber M, Lootah RA, Hallast P, Al Turki S, Martin HC, Xue Y, Tyler-Smith C. Almarri MA, et al. Among authors: al turki s. Cell. 2021 Sep 2;184(18):4612-4625.e14. doi: 10.1016/j.cell.2021.07.013. Epub 2021 Aug 4. Cell. 2021. PMID: 34352227 Free PMC article.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact… See abstract for full author list ➔ Zhang Q, et al. Among authors: al turki s. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
52 results