Andrea Gregorova
Ostrava, MO, Czech Republic
Last Updated: 09/26/2026
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Found 9 publications
A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: August 27, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 2025
Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Journal: Clinical genetics
Published: April 01, 2025
When neuroglial tissue wanders: a unique case report of subpleural heterotopia in a triploid foetus and review of the literature.
Journal: Frontiers in medicine
Published: March 22, 2025
Ventricular fibrillation during football training as a consequence of kratom and caffeine use in an adolescent: case report.
Journal: European heart journal. Case reports
Published: August 11, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Journal: Clinical genetics
Published: May 25, 2023
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Journal: International journal of legal medicine
Published: June 29, 2022
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Journal: European journal of medical genetics
Published: July 23, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026