Anna Krepelova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 31 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
A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.
Journal: Molecular genetics & genomic medicine
Published: May 09, 2025
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
Journal: Molecular biology reports
Published: November 14, 2023
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Journal: Italian journal of pediatrics
Published: May 27, 2022
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Journal: American journal of medical genetics. Part A
Published: March 15, 2021
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Journal: Parkinsonism & related disorders
Published: August 24, 2019
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: June 12, 2018
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
Replication of SNP associations with keratoconus in a Czech cohort.
Journal: PloS one
Published: October 05, 2016
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Journal: Neuro endocrinology letters
Published: June 29, 2016
Hepatoblastoma, Etiology, Case Reports
Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
Published: December 23, 2015
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report
Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
Published: December 23, 2015
Last Updated: 09/26/2026