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Page 1
2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM. Tumiene B, et al. Genes (Basel). 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508. Genes (Basel). 2022. PMID: 35328062 Free PMC article. Review.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 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: tumiene b. Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23. Ophthalmic Genet. 2017. PMID: 27880066
[Fabry's disease: a clinical case and literature review].
Dobrovolskiene R, Utkus A, Tumiene B, Rainiene T, Czartoryska B. Dobrovolskiene R, et al. Among authors: tumiene b. Medicina (Kaunas). 2007;43 Suppl 1:139-44. Medicina (Kaunas). 2007. PMID: 17551292 Free article. Lithuanian.
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A. Mikstiene V, et al. Among authors: tumiene b. BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9. BMC Genet. 2016. PMID: 26896187 Free PMC article.
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Tumienė B, Voisin N, Preikšaitienė E, Petroška D, Grikinienė J, Samaitienė R, Utkus A, Reymond A, Kučinskas V. Tumienė B, et al. Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9. Eur J Med Genet. 2017. PMID: 28089741
39 results