Jana Drabova
Prague, PR 15000, Czech Republic
Last Updated: 09/26/2026
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Found 22 publications
Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency.
Journal: Journal of the Endocrine Society
Published: March 15, 2026
Patterns of chromosomal instability and epigenetic alterations in colorectal cancer progression: from high-grade dysplasia to liver metastases.
Journal: Mutagenesis
Published: November 13, 2025
Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases.
Journal: European journal of pediatrics
Published: April 01, 2025
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 03, 2024
Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions.
Journal: International journal of molecular sciences
Published: June 16, 2022
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.
Journal: Neuroscience letters
Published: March 27, 2019
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Journal: Cytogenetic and genome research
Published: March 02, 2018
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Journal: Molecular cytogenetics
Published: February 05, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
Journal: Human mutation
Published: October 02, 2017
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
Journal: American journal of medical genetics. Part A
Published: August 24, 2017
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
Last Updated: 09/26/2026