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Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.
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
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C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.
Arnaout R, Al Shorbaghi S, Al Dhekri H, Al-Mousa H, Al Ghonaium A, Al Saud B, Al Muhsen S, Al Baik L, Hawwari A.
Arnaout R, et al.
J Clin Immunol. 2013 May;33(4):871-5. doi: 10.1007/s10875-013-9872-7. Epub 2013 Feb 1.
J Clin Immunol. 2013.
PMID: 23371790
Review.
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