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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Among authors: al hilali m. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
Shock: an unusual presentation of Kawasaki disease.
Thabet F, Bafaqih H, Al-Mohaimeed S, Al-Hilali M, Al-Sewairi W, Chehab M. Thabet F, et al. Eur J Pediatr. 2011 Jul;170(7):941-3. doi: 10.1007/s00431-011-1426-5. Epub 2011 Feb 24. Eur J Pediatr. 2011. PMID: 21347847
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Alabbas F, Alanzi T, Alrasheed A, Essa M, Elyamany G, Asiri A, Almutairi S, Al-Mayouf S, Alenazi A, Alsafadi D, Ballourah W, Albalawi N, Hanafy E, Al-Hebshi A, Alrashidi S, Albatniji F, Alfaraidi H, Ali TB, Al Qwaiee M, AlHilali M, Aldeeb H, Alhaidey A, Aljasem H, Althubaiti S, Alsultan A. Alabbas F, et al. J Clin Immunol. 2023 Feb;43(2):338-349. doi: 10.1007/s10875-022-01364-9. Epub 2022 Oct 14. J Clin Immunol. 2023. PMID: 36239861
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