Š. Vejvalková

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

M. Turnovec, Miroslava Balaščáková, J. Čopíková, 2020, Annals of human genetics.

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation—a review of the literature

A. Křepelová, M. Suková, F. Fencl, 2016, European Journal of Pediatrics.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

M. Trková, Z. Sedlacek, M. Vlčková, 2013, Gene.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

M. Macek, A. Maver, M. Havlovicová, 2016, Clinical genetics.

Array comparative genome hybridization in patients with developmental delay: two example cases.

Z. Sedlacek, P. Hedvičáková, M. Vlčková, 2012, New biotechnology.