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PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E, Maldžienė Ž, Mikštienė V, Petraitytė G, Rančelis T, Dapkūnas J, Burnytė B, Benušienė E, Sasnauskienė A, Grikinienė J, Griškevičiūtė E, Utkus A, Preikšaitienė E. Siavrienė E, et al. Among authors: maldziene z. Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526. Medicina (Kaunas). 2022. PMID: 36363484 Free PMC article.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Petraitytė G, Mikštienė V, Siavrienė E, Cimbalistienė L, Maldžienė Ž, Rančelis T, Vaitėnienė EM, Ambrozaitytė L, Dapkūnas J, Dzindzalieta R, Pranckevičienė E, Kučinskas V, Utkus A, Preikšaitienė E. Petraitytė G, et al. Among authors: maldziene z. Medicina (Kaunas). 2022 Feb 26;58(3):351. doi: 10.3390/medicina58030351. Medicina (Kaunas). 2022. PMID: 35334527 Free PMC article.
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E, Mikštienė V, Radzevičius D, Maldžienė Ž, Rančelis T, Petraitytė G, Tamulytė G, Kavaliauskienė I, Šarkinas L, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: maldziene z. Mol Genet Genomic Med. 2019 Sep;7(9):e878. doi: 10.1002/mgg3.878. Epub 2019 Jul 20. Mol Genet Genomic Med. 2019. PMID: 31325247 Free PMC article.
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V. Preiksaitiene E, et al. Among authors: maldziene z. Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23. Ophthalmic Genet. 2017. PMID: 27880066
11 results