- Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg2014 | 2. lékařská fakulta
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | 1. lékařská fakulta
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publikace bez příslušnosti k fakultě
- Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency2020 | 2. lékařská fakulta
- Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies2008 | 2. lékařská fakulta
- Deletions in the 3 ' Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome2014 | 2. lékařská fakulta
- Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation2018 | 1. lékařská fakulta
- Prot2HG: a database of protein domains mapped to the human genome2020 | 2. lékařská fakulta