Evelina Siavrienė
7PUBLICATIONS
7CO-AUTHORS
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Publications (7)
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|Jul 29, 2023
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė
|Nov 11, 2022
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė
|Mar 26, 2022
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė
|Dec 05, 2021
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė
|Oct 20, 2019
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau
|Jul 21, 2019
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius
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