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

por Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik
Publicado 2015

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

por Wayhelova, Marketa, Oppelt, Jan, Smetana, Jan, Hladilkova, Eva, Filkova, Hana, Makaturova, Eva, Nikolova, Petra, Beharka, Rastislav, Gaillyova, Renata, Kuglik, Petr
Publicado 2019

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

por Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr
Publicado 2021

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

por Wayhelova, Marketa, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr
Publicado 2019