Publications
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide2003 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Medical genetics in reproductive medicine2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- 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 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)2000 | Central Library of Charles University
- Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics1999 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- PAPP-A, free beta HCG, ultrasound and quantitative fluorescent PCR in the early prenatal detection of chromosome aneuploidies1999 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q131999 | Second Faculty of Medicine
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis1998 | Second Faculty of Medicine
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