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Year Number of Results
2004 2
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2007 1
2009 1
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2016 5
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2022 14
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Page 1
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Jafari Khamirani H, Palicharla VR, Dastgheib SA, Dianatpour M, Imanieh MH, Tabei SS, Besse W, Mukhopadhyay S, Liem KF Jr. Jafari Khamirani H, et al. Front Genet. 2022 Oct 7;13:1021037. doi: 10.3389/fgene.2022.1021037. eCollection 2022. Front Genet. 2022. PMID: 36276950 Free PMC article.
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. 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.
110 results