Evelina Siavriene
Vilnius, VL, Lithuania
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
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
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
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Journal: Molecular genetics & genomic medicine
Published: July 15, 2019
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Journal: Gene
Published: June 24, 2019
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Journal: Molecular genetics & genomic medicine
Published: May 18, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026