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Page 1
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: alsaleem b. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Al-Hussaini A, et al. Among authors: alsaleem b. J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8. J Pediatr. 2014. PMID: 24321534
Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.
Al-Hussaini AA, Setchell KDR, AlSaleem B, Heubi JE, Lone K, Davit-Spraul A, Jacquemin E. Al-Hussaini AA, et al. Among authors: alsaleem b. J Pediatr Gastroenterol Nutr. 2017 Dec;65(6):613-620. doi: 10.1097/MPG.0000000000001734. J Pediatr Gastroenterol Nutr. 2017. PMID: 28902093
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S. Cuchet-Lourenço D, et al. Among authors: alsaleem b. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19. Science. 2018. PMID: 30026316 Free PMC article.
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: alsaleem b. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
Fungal Dysbiosis in Children with Celiac Disease.
El Mouzan M, Al-Hussaini A, Fanelli B, Assiri A, AlSaleem B, Al Mofarreh M, Al Sarkhy A, Alasmi M. El Mouzan M, et al. Among authors: alsaleem b. Dig Dis Sci. 2022 Jan;67(1):216-223. doi: 10.1007/s10620-021-06823-8. Epub 2021 Mar 16. Dig Dis Sci. 2022. PMID: 33723701
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.
Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS. Alsaleem BM, et al. Saudi J Gastroenterol. 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. Saudi J Gastroenterol. 2022. PMID: 34414925 Free PMC article.
31 results