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Clinical & Experimental Ophthalmology|June 11, 2016
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndromeAnna Krepelova, Martina Simandlova, Marketa Vlckova, et al.
Gene|December 26, 2012
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15Miroslava Hancarova, Sarka Vejvalkova, Marie Trkova, et al.
American Journal of Medical Genetics. Part A|December 22, 2022
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlationHana Zunova, Miroslav Stolfa, Tereza Kunikova, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autismAlzbeta Vazna, Zuzana Musova, Marketa Vlckova, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|June 10, 2014
Monozygotic twins with 17q21.31 microdeletion syndromeMarketa Vlckova, Miroslava Hancarova, Jana Drabova, et al.
Molecular Genetics & Genomic Medicine|February 25, 2023
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlationMarketa Vlckova, Darina Prchalova, Pavel Zimmermann, et al.
European Journal of Medical Genetics|September 16, 2015
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypesMarketa Vlckova, Martina Simandlova, Pavel Zimmermann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 26, 2023
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panelLucie Sedlackova, Katalin Sterbova, Marketa Vlckova, et al.
New Biotechnology|October 26, 2010
Array comparative genome hybridization in patients with developmental delay: two example casesMiroslava Hancarova, Jana Drabova, Zuzana Zmitkova, et al.
Neurology. Genetics|June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic DiseaseAlena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
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