Radka Pourova-Kremlikova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 9 publications
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
Axenfeld-Rieger syndrome: more than meets the eye.
Journal: Journal of medical genetics
Published: April 22, 2022
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: April 27, 2020
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Journal: Annals of human genetics
Published: December 31, 2019
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: May 16, 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
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: August 18, 2017
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Last Updated: 09/26/2026