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Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Ehsani E, Khamirani HJ, Abbasi Z, Gohari M, Zoghi S, Mohammadi S, Dianatpour M, Tabei SMB, Mohamadjani O, Dastgheib SA. Ehsani E, et al. Among authors: mohammadi s. Eur J Med Genet. 2022 Aug;65(8):104552. doi: 10.1016/j.ejmg.2022.104552. Epub 2022 Jun 22. Eur J Med Genet. 2022. PMID: 35752288 Review.
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.
Jafari Khamirani H, Dianatpour M, Zoghi S, Mohammadi S, Habib A, Dastgheib SA, Tabei SMB, Molayemat M, Shirazi Yeganeh B. Jafari Khamirani H, et al. Among authors: mohammadi s. Immunol Invest. 2022 Aug;51(6):1883-1894. doi: 10.1080/08820139.2022.2072736. Epub 2022 May 12. Immunol Invest. 2022. PMID: 35549617
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