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Lista de obras de Petr Vyletal

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

artículo científico publicado en 2007

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

artículo científico publicado en 2009

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

artículo científico publicado en 2005

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

artículo científico publicado en 2013

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

artículo científico publicado en 2018

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

artículo científico publicado en 2011

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases

scientific article published on 24 July 2019

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease

Uromodulin Biology and Pathophysiology – An Update ⬇️

artículo científico publicado el 25 de noviembre de 2010

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

artículo científico publicado en 2014

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