Radka K. Pourova - Publications

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.

Journal: Pediatric neurology

Published: May 24, 2024

Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: August 19, 2022

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.

Journal: Journal of community genetics

Published: June 30, 2022

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.

Journal: Journal of community genetics

Published: February 14, 2022

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.

Journal: Balkan medical journal

Published: July 18, 2021

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 25, 2018

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 23, 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

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.

Journal: Neuropsychiatric disease and treatment

Published: October 04, 2016

Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.

Journal: Autism research : official journal of the International Society for Autism Research

Published: August 18, 2016

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Journal: Clinical genetics

Published: October 07, 2015

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Journal: American journal of medical genetics. Part A

Published: March 14, 2014