Vera Horinova
Jihlava, VY, Czech Republic
Last Updated: 09/26/2026
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Found 9 publications
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
Journal: Molecular syndromology
Published: October 13, 2022
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.
Journal: Frontiers in genetics
Published: July 30, 2021
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
Journal: Molecular syndromology
Published: February 18, 2020
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Journal: Annals of human genetics
Published: December 31, 2019
DICER1 Syndrome.
Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
Published: August 15, 2019
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
Journal: BMC medical genetics
Published: December 20, 2017
Preimplantation genetic diagnosis (PGD) of hereditary cancer syndromes
Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
Published: August 28, 2012
Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.
Journal: Journal of assisted reproduction and genetics
Published: August 13, 2012
The effect of the swim-up and hyaluronan-binding methods on the frequency of abnormal spermatozoa detected by FISH and SCSA in carriers of balanced chromosomal translocations.
Journal: Human reproduction (Oxford, England)
Published: January 13, 2012
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Last Updated: 09/26/2026