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List of works by Violeta Mikstiene

A de novo 13q31.3 microduplication encompassing the miR-17∼92 cluster results in features mirroring those associated with Feingold syndrome 2

scientific article published on 27 May 2020

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

scientific article published on 17 July 2019

Age-dependent heterogeneity of familiar hypertrophic cardiomyopathy phenotype: a role of cardiovascular magnetic resonance

scientific article

Autosomal recessive hypercholesterolemia: Case report

scientific article published on 23 September 2019

De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome

scientific article published on 19 October 2019

Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users

scientific article published on 10 April 2020

Genetic Disease Modifying Future Career: A Case Report of Long QT Syndrome

scholarly article published in 2018

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

scientific article published on 20 July 2019

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report

scientific article

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement

scientific article published on 01 June 2016

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

scientific article published on 19 February 2016

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified

scientific article published on 23 February 2015

Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy - a Case Report

scientific article

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