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Alport syndrome: Proteomic analysis identifies early molecular pathway alterations in Col4a3 knock out mice

artículo científico publicado en 2020

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

artículo científico publicado en 2007

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

artículo científico publicado en 2009

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

artículo científico publicado en 2011

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

artículo científico publicado en 2010

Proteomic analysis in lupus mice identifies Coronin-1A as a potential biomarker for lupus nephritis

scientific article published on 18 June 2020

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

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