Violeta Mikstiene

Vilnius, VL 08406, Lithuania

Last Updated: 09/26/2026

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Found 26 publications

Evidence for the Pathogenicity of a CFH Variant in a Multigenerational Family with Cuticular Drusen.

Evidence for the Pathogenicity of a CFH Variant in a Multigenerational Family with Cuticular Drusen.

Journal: Medicina (Kaunas, Lithuania)
Published: July 26, 2025

Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.

Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.

Journal: BMC cardiovascular disorders
Published: May 23, 2025

Clinical, Electrical, and Mechanical Parameters in Potassium Channel-Mediated Congenital Long QT Syndrome.

Clinical, Electrical, and Mechanical Parameters in Potassium Channel-Mediated Congenital Long QT Syndrome.

Journal: Journal of clinical medicine
Published: March 06, 2025

Searching for a Solution: A Case Report on Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome.

Searching for a Solution: A Case Report on Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome.

Journal: Medicina (Kaunas, Lithuania)
Published: January 10, 2025

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

Journal: BMC pediatrics
Published: July 17, 2024

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Journal: Clinical epigenetics
Published: April 05, 2024

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.

Journal: Medicina (Kaunas, Lithuania)
Published: May 26, 2023

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

Journal: Clinical dysmorphology
Published: March 06, 2023

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.

Journal: Medicina (Kaunas, Lithuania)
Published: September 15, 2022

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Journal: Medicina (Kaunas, Lithuania)
Published: January 26, 2022

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.

Journal: Medicina (Kaunas, Lithuania)
Published: June 04, 2021

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.

Journal: BMC musculoskeletal disorders
Published: May 07, 2021
Showing 1-12 of 26

Last Updated: 09/26/2026