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Page 1
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
Owaidah T, Saleh M, Baz B, Abdulaziz B, Alzahrani H, Tarawah A, Almusa A, AlNounou R, AbaAlkhail H, Al-Numair N, Altahan R, Abouelhoda M, Alamoudi T, Monies D, Jabaan A, Al Tassan N. Owaidah T, et al. NPJ Genom Med. 2019 Feb 14;4:4. doi: 10.1038/s41525-019-0079-6. eCollection 2019. NPJ Genom Med. 2019. PMID: 30792900 Free PMC article.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F. Ramzan K, et al. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):172-180. doi: 10.1002/ajmg.b.32774. Epub 2019 Dec 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31854501
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M. Imtiaz F, et al. Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417071 Free PMC article.
The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM. Hawsawi YM, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e879. doi: 10.1002/mgg3.879. Epub 2019 Jul 17. Mol Genet Genomic Med. 2019. PMID: 31317679 Free PMC article. Review.
A novel homozygous SCN5A variant detected in sick sinus syndrome.
Alkorashy M, Al-Ghamdi B, Tulbah S, Al-Numair NS, Alhadeq F, A Takroni S, Al-Hassnan ZN. Alkorashy M, et al. Among authors: al numair ns. Pacing Clin Electrophysiol. 2021 Feb;44(2):380-384. doi: 10.1111/pace.14077. Epub 2020 Oct 1. Pacing Clin Electrophysiol. 2021. PMID: 32965045
28 results