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The value of clinical criteria in identifying patients with X-linked Alport syndromeClinical utility gene card for: Alport syndromeCoinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsCOL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.The p55 tumour necrosis factor receptor TNFR1 contains a trans-Golgi network localization signal in the C-terminal region of its cytoplasmic tail.Clinical utility gene card for: Alport syndrome - update 2014.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Marked hemiatrophy in carriers of Duchenne muscular dystrophy.Evidence of digenic inheritance in Alport syndrome.
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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type
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Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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prefLabel
Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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Helen Storey
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P21
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0000-0002-2214-6444