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Page 1
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: almuntashri m. J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. J Med Genet. 2015. PMID: 25539947
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Alfadhel M, et al. Among authors: almuntashri m. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Orphanet J Rare Dis. 2013. PMID: 23742248 Free PMC article. Review.
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. Among authors: almuntashri m. 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 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: almuntashri m. 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.
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. Among authors: almuntashri m. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
Endoscopic versus Open Microsurgical Excision of Colloid Cysts: A Comparative Analysis and State-of-the-Art Review of Neurosurgical Techniques.
Alkhaibary A, Baydhi L, Alharbi A, Alshaikh AA, Khairy S, Abbas M, Abdelkhalek Aboushady AM, Almuntashri M, Alassiri AH, Alkhani A, Alferayan AA, Aloraidi A. Alkhaibary A, et al. Among authors: almuntashri m. World Neurosurg. 2021 May;149:e298-e308. doi: 10.1016/j.wneu.2021.02.032. Epub 2021 Feb 16. World Neurosurg. 2021. PMID: 33601083
Oculomotor nerve palsy following coronary artery bypass graft surgery: can pituitary apoplexy complicate the post-operative course of cardiac surgery?
Alkhaibary A, Alsubaie N, Alharbi A, Alghanim N, Khairy S, Almuntashri M, Alwohaibi M, Alarifi A, Aloraidi A, Alkhani A. Alkhaibary A, et al. Among authors: almuntashri m. J Surg Case Rep. 2021 Jul 31;2021(7):rjab312. doi: 10.1093/jscr/rjab312. eCollection 2021 Jul. J Surg Case Rep. 2021. PMID: 34345402 Free PMC article.
Hypothalamic Lipoma: Outcome of an Intracranial Developmental Lesion.
Alkhaibary A, Alsubaie N, Alharbi A, Alghanim N, Baydhi L, Khairy S, Musawnaq F, Alarifi A, Alwohaibi M, Aloraidi A, Almuntashri M, Alkhani A. Alkhaibary A, et al. Among authors: almuntashri m. Case Rep Surg. 2022 Jan 15;2022:7216090. doi: 10.1155/2022/7216090. eCollection 2022. Case Rep Surg. 2022. PMID: 35075401 Free PMC article.
17 results