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A Novel Fibrillin–1 Mutation in an Egyptian Marfan Family: A Proband Showing Nephrotic Syndrome Due to Focal Segmental Glomerulosclerosis.
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- Saudi Journal of Kidney Diseases & Transplantation, 2017, v. 28, n. 1, p. 141, doi. 10.4103/1319-2442.198166
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- Article
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1134, doi. 10.1038/ejhg.2012.77
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- Article
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
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- Clinical & Experimental Nephrology, 2012, v. 16, n. 4, p. 604, doi. 10.1007/s10157-012-0603-9
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- Article