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Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.
Al-Hamed MH, Alzaidan H, Hussein M, Albaik L, Qari A, Sayer JA, Imtiaz F. Al-Hamed MH, et al. Among authors: albaik l. Clin Kidney J. 2020 Jun 24;14(2):728-730. doi: 10.1093/ckj/sfaa090. eCollection 2021 Feb. Clin Kidney J. 2020. PMID: 33623699 Free PMC article. No abstract available.
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