Gunda Petraityte
Vilnius, VL 08406, Lithuania
Last Updated: 09/26/2026
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Found 13 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.
Journal: BMC cardiovascular disorders
Published: May 23, 2025
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
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.
Journal: Medicina (Kaunas, Lithuania)
Published: May 26, 2023
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.
Journal: Medicina (Kaunas, Lithuania)
Published: January 26, 2022
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
Genome Editing in Medicine: Tools and Challenges.
Journal: Acta medica Lituanic
Published: January 01, 2021
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Journal: Molecular genetics & genomic medicine
Published: May 18, 2019
Last Updated: 09/26/2026