Eva Hladílková

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

Eva Hladílková, Tuva Barøy, Madeleine Fannemel et al. · Molecular Cytogenetics · 2015 · 66 citations · Full text

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

Markéta Wayhelová, Jan Smetana, Vladimíra Vallová et al. · BMC Medical Genomics · 2019 · 32 citations · Full text

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

Jan Smetana, Vladimíra Vallová, Markéta Wayhelová et al. · Frontiers in Genetics · 2021 · 19 citations · Full text

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

Markéta Wayhelová, Jan Oppelt, Jan Smetana et al. · Molecular Medicine Reports · 2019 · 17 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +27