Egle Preiksaitiene

Santariškių St. 2
Vilnius, VL 08661, Lithuania

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 56 publications

Case Report: Five-year follow-up of leptomeningeal transthyretin amyloidosis (Ala45Thr) with CNS involvement under tolcapone therapy.

Case Report: Five-year follow-up of leptomeningeal transthyretin amyloidosis (Ala45Thr) with CNS involvement under tolcapone therapy.

Journal: Frontiers in medicine

Published: April 11, 2026

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.

Journal: Genes

Published: August 05, 2025

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

Identifying Hereditary Leiomyomatosis and Renal Cell Cancer through Unobtrusive Cutaneous Nodules: A Clinical Report.

Identifying Hereditary Leiomyomatosis and Renal Cell Cancer through Unobtrusive Cutaneous Nodules: A Clinical Report.

Journal: Journal of kidney cancer and VHL

Published: October 09, 2024

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

Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.

Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.

Journal: Medicina (Kaunas, Lithuania)

Published: January 10, 2024

Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN.

Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN.

Journal: Acta medica Lituanic

Published: January 01, 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

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.

Journal: Medicina (Kaunas, Lithuania)

Published: April 02, 2023

Showing 1-12 of 56

Last Updated: 09/26/2026