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Page 1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
Hum Genet. 2017.
PMID: 28600779
Free PMC article.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A; COVID Human Genetic Effort; Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Béziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I.
Bucciol G, et al. Among authors: al saud bk.
J Clin Invest. 2023 Jun 15;133(12):e168321. doi: 10.1172/JCI168321.
J Clin Invest. 2023.
PMID: 36976641
Free PMC article.
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Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients.
Al-Saud BK, Al-Sum Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Arnaout R, Alsmadi O, Borrero E, Abu-Staiteh A, Rawas F, Al-Mousa H, Hawwari A.
Al-Saud BK, et al.
J Clin Immunol. 2013 Nov;33(8):1325-35. doi: 10.1007/s10875-013-9951-9.
J Clin Immunol. 2013.
PMID: 24122029
Review.
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Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J.
Le Voyer T, et al. Among authors: al saud bk.
J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28.
J Immunol. 2021.
PMID: 34183371
Free PMC article.
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A novel mutation in the POLE2 gene causing combined immunodeficiency.
Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, Manis JP.
Frugoni F, et al. Among authors: al saud bk.
J Allergy Clin Immunol. 2016 Feb;137(2):635-638.e1. doi: 10.1016/j.jaci.2015.06.049. Epub 2015 Sep 11.
J Allergy Clin Immunol. 2016.
PMID: 26365386
Free PMC article.
No abstract available.
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Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.
Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA.
Alroqi FJ, et al. Among authors: al saud bk.
J Allergy Clin Immunol. 2018 Mar;141(3):1050-1059.e10. doi: 10.1016/j.jaci.2017.05.022. Epub 2017 Jun 7.
J Allergy Clin Immunol. 2018.
PMID: 28601686
Free PMC article.
Clinical Trial.
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