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Petraitytė, Gunda; Mikštienė, Violeta; Siavrienė, Evelina; Cimbalistienė, Loreta; Maldžienė, Živilė; Rančelis, Tautvydas; Vaitėnienė, Evelina Marija; Ambrozaitytė, Laima; Dapkūnas, Justas; Dzindzalieta, Ramūnas; Pranckevičienė, Erinija; Kučinskas, Vaidutis; Utkus, Algirdas; Preikšaitienė, Eglė. Donor splice site variant in SLC9A6 causes Christianson syndrome in a Lithuanian family: a case report // Medicina. Kaunas; Basel : LSMU ; MDPI AG. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, no. 3, art. no. 351, p. [1-11]. DOI: 10.3390/medicina58030351. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)] |
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Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Urnikytė, Alina; Dauengauer-Kirlienė, Svetlana; Pilypienė, Ingrida; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Detection of recent positive selection signatures in the cohort of Lithuanian Chernobyl catastrophe liquidators // European Society of Human Genetics (ESHG) Conference 2022: hybrid conference, Vienna, Austria, June 11–14, 2022. Vienna : ESHG. 2022, p. [1]. |
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Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. LOXL1 risk variant suggests protective effect for exfoliation syndrome and glaucoma in the cohort of Lithuanian Chernobyl catastrophe liquidators // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, p. 598. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)] |