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Page 1
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Saleh MM, Hamhom AM, Al-Otaibi A, AlGhamdi M, Housawi Y, Aljadhai YI, Alameer S, Almannai M, Jad LA, Alwadei AH, Tabassum S, Alsaman A, AlAsmari A, Al Mutairi F, Althiyab H, Bashiri FA, AlHumaidi S, Alfadhel M, Mink JW, AlHashim A, Faqeih EA; Saudi NCL Study Consortium. Saleh MM, et al. Among authors: al mutairi f. Pediatr Neurol. 2024 Mar 7;155:149-155. doi: 10.1016/j.pediatrneurol.2024.03.004. Online ahead of print. Pediatr Neurol. 2024. PMID: 38653183
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: al mutairi f. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Among authors: al mutairi f. Clin Genet. 2024 Jun;105(6):620-629. doi: 10.1111/cge.14492. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356149
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Danish E, Alhashem A, Aljehani R, Aljawi A, Aldarwish MM, Al Mutairi F, Alfadhel M, Alrifai MT, Alobaisi S. Danish E, et al. Among authors: al mutairi f. Saudi J Ophthalmol. 2023 Sep 16;37(4):301-306. doi: 10.4103/sjopt.sjopt_108_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155673 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: al mutairi f. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Correction: Evaluation of the use of methylprednisolone and dexamethasone in asthma critically ill patients with COVID-19: a multicenter cohort study.
Al Sulaiman K, Aljuhani O, Korayem GB, Altebainawi AF, Alharbi R, Assadoon M, Vishwakarma R, Ismail NH, Alshehri AA, Al Mutairi FE, AlFaifi M, Alharthi AF, Alenazi AA, Alalawi M, Al Zumai O, Al Haji H, Al Dughaish ST, Alawaji AS, Alhaidal HA, Al Ghamdi G. Al Sulaiman K, et al. Among authors: al mutairi fe. BMC Pulm Med. 2023 Oct 17;23(1):392. doi: 10.1186/s12890-023-02687-y. BMC Pulm Med. 2023. PMID: 37848847 Free PMC article. No abstract available.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: al mutairi f. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279
Evaluation of the use of methylprednisolone and dexamethasone in asthma critically ill patients with COVID-19: a multicenter cohort study.
Al Sulaiman K, Aljuhani O, Korayem GB, Altebainawi A, Alharbi R, Assadoon M, Vishwakarma R, Ismail NH, Alshehri AA, Al Mutairi FE, AlFaifi M, Alharthi AF, Alenazi AA, Alalawi M, Al Zumai O, Al Haji H, Al Dughaish ST, Alawaji AS, Alhaidal HA, Al Ghamdi G. Al Sulaiman K, et al. Among authors: al mutairi fe. BMC Pulm Med. 2023 Aug 28;23(1):315. doi: 10.1186/s12890-023-02603-4. BMC Pulm Med. 2023. PMID: 37641042 Free PMC article.
Home versus Clinic Blood Pressure Monitoring: Evaluating Applicability in Hypertension Management via Telemedicine.
Al-Anazi AF, Gul R, Al-Harbi FT, Al-Radhi SA, Al-Harbi H, Altaher A, Al-Harbi MM, Al-Rashidi FO, Al-Haweeri OS, Al-Mutairi FM, Al-Riyaee AA, Al-Hotan FM, Al-Radhi AA, Al Shehri HM, Alharbi MS, ALGhasab NS. Al-Anazi AF, et al. Among authors: al mutairi fm. Diagnostics (Basel). 2023 Aug 15;13(16):2686. doi: 10.3390/diagnostics13162686. Diagnostics (Basel). 2023. PMID: 37627945 Free PMC article.
93 results