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Page 1
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: alharbi gs. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
Evaluation of clinical outcomes of anidulafungin for the treatment of candidemia in hospitalized critically ill patients with obesity: A multicenter, retrospective cohort study.
Alsowaida YS, Sulaiman KA, Mahrous AJ, Alharbi A, Bifari N, Alshahrani WA, Almangour TA, Damfu N, Banamah AA, Raya RRA, Sadawi RA, Alharbi A, Alsolami A, Essa Y, Almagthali AG, Alhejaili SF, Qawwas WA, Alharbi GS, Alkeraidees AS, Alshomrani A, Aljohani MA, Aljuhani O. Alsowaida YS, et al. Among authors: alharbi gs. Int J Infect Dis. 2024 Nov;148:107234. doi: 10.1016/j.ijid.2024.107234. Epub 2024 Sep 4. Int J Infect Dis. 2024. PMID: 39241957 Free article.
The Impact of Parental Involvement in the Prevention and Management of Obesity in Children: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Aleid AM, Sabi NM, Alharbi GS, Alharthi AA, Alshuqayfi SM, Alnefiae NS, Ismail GM, Allhybi AK, Alrasheeday AM, Alshammari B, Alabbasi Y, Al Mutair A. Aleid AM, et al. Among authors: alharbi gs. Children (Basel). 2024 Jun 17;11(6):739. doi: 10.3390/children11060739. Children (Basel). 2024. PMID: 38929318 Free PMC article.
Pediatric Neck Swelling: A Case Report of Fourth Branchial Cleft Cyst.
Al-Thawwab NI, Alhashim MJ, Alharbi GS, Alharbi KM, Abdultawab AA. Al-Thawwab NI, et al. Among authors: alharbi gs. Cureus. 2023 Dec 7;15(12):e50149. doi: 10.7759/cureus.50149. eCollection 2023 Dec. Cureus. 2023. PMID: 38186420 Free PMC article.
12 results