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Lista de obras de Bettina Mucha

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

scientific article published on 16 May 2019

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

artículo científico publicado en 2006

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome

artículo científico publicado en 2007

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

artículo científico publicado en 2006

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

artículo científico publicado en 2003

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

artículo científico publicado en 2004

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

artículo científico publicado en 2004

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

artículo científico publicado en 2004

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

artículo científico publicado en 2008

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

scientific article published on 01 August 2000

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