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List of works by Helen Storey

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.

scientific article published on 12 December 2013

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

scientific article published on 19 September 2013

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

scientific article published on 2 November 2013

Clinical utility gene card for: Alport syndrome

scientific article

Clinical utility gene card for: Alport syndrome - update 2014.

scientific article published on 12 November 2014

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

scientific article

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

scientific article published on 13 October 2014

Evidence of digenic inheritance in Alport syndrome

scientific article published on 9 January 2015

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

scientific article published in April 2010

The p55 tumour necrosis factor receptor TNFR1 contains a trans-Golgi network localization signal in the C-terminal region of its cytoplasmic tail.

scientific article

The value of clinical criteria in identifying patients with X-linked Alport syndrome

scientific article

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

scientific article

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