Zuzana Hrubá

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

Zuzana Vrzalová, Zuzana Hrubá, Eva Hrabincová et al. · European Journal of Medical Genetics · 2010 · 38 citations

Adrenal Gland, Congenital Adrenal Hyperplasia, Genetic Disorder +8

Point mutations in Czech DMD/BMD patients and their phenotypic outcome

Jana Sedláčková, Petr Vondráček, Markéta Hermanová et al. · Neuromuscular Disorders · 2009 · 20 citations

Mendelian Disorder, Genetic Disorder, Medicine +6

Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

Kamila Réblová, Zuzana Hrubá, Dagmar Procházková et al. · Clinica Chimica Acta · 2013 · 17 citations · Full text

Silico Analysis, Mendelian Disorder, Genetic Disorder +11

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Dagmar Procházková, Zuzana Hrubá, Petra Konečná et al. · Journal of Clinical Research in Pediatric Endocrinology · 2016 · 12 citations · Full text

Developmental Anomaly, Wfs1 Gene Associated, Mendelian Disorder +14