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Authors whose works are in public domain in at least one jurisdiction

List of works by Miroslava Hancarova

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

scientific article published on 23 July 2019

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

scientific article

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.

scientific article published on 25 April 2018

Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes ⬇️

scientific article published on December 27, 2012

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

scientific article published on 30 November 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15 ⬇️

scientific article published on December 22, 2012

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

scientific article published on 01 August 2019

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