Publikace
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations2006 | 2. lékařská fakulta
- Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases2005 | 2. lékařská fakulta
- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign2004 | 2. lékařská fakulta
- Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe2000 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 2. lékařská fakulta
- 45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology2013 | 2. lékařská fakulta
- Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens2011 | 2. lékařská fakulta
- Hereditární pankreatitida2009 | 2. lékařská fakulta
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