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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 2
2012 2
2013 2
2014 2
2015 3
2016 5
2017 5
2018 3
2019 7
2020 5
2021 8
2022 3
2023 3
2024 1

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46 results

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Page 1
Genome Editing in Medicine: Tools and Challenges.
Petraitytė G, Preikšaitienė E, Mikštienė V. Petraitytė G, et al. Among authors: preiksaitiene e. Acta Med Litu. 2021;28(2):205-219. doi: 10.15388/Amed.2021.28.2.8. Epub 2021 Aug 17. Acta Med Litu. 2021. PMID: 35637939 Free PMC article. Review.
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: preiksaitiene e. Medicina (Kaunas). 2023 Jun 29;59(7):1225. doi: 10.3390/medicina59071225. Medicina (Kaunas). 2023. PMID: 37512036 Free PMC article.
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
Žebrauskienė D, Sadauskienė E, Masiulienė R, Aidietienė S, Šiaudinienė A, Pečeliūnas V, Žukauskaitė G, Žurauskas E, Valevičienė N, Barysienė J, Preikšaitienė E. Žebrauskienė D, et al. Among authors: preiksaitiene e. Medicina (Kaunas). 2024 Jan 30;60(2):237. doi: 10.3390/medicina60020237. Medicina (Kaunas). 2024. PMID: 38399526 Free PMC article.
Challenges in the Diagnosis of XY Differences of Sexual Development.
Bumbulienė Ž, Bužinskienė D, Banuškevičienė G, Šidlovska E, Preikšaitienė E, Utkus A. Bumbulienė Ž, et al. Among authors: preiksaitiene e. Medicina (Kaunas). 2022 Nov 27;58(12):1736. doi: 10.3390/medicina58121736. Medicina (Kaunas). 2022. PMID: 36556938 Free PMC article.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study; Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. den Hoed J, et al. Among authors: preiksaitiene e. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. Am J Hum Genet. 2021. PMID: 33513338 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. Among authors: preiksaitiene e. 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
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: preiksaitiene e. 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.
46 results