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Page 1
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.
Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.
Zebrauskiene D, Sadauskiene E, Dapkunas J, Kairys V, Balciunas J, Konovalovas A, Masiuliene R, Petraityte G, Valeviciene N, Mataciunas M, Barysiene J, Mikstiene V, Tomkuviene M, Preiksaitiene E. Zebrauskiene D, et al. Among authors: preiksaitiene e. Clin Epigenetics. 2024 Jun 6;16(1):76. doi: 10.1186/s13148-024-01686-y. Clin Epigenetics. 2024. PMID: 38845031 Free PMC article.
Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.
Žebrauskienė D, Sadauskienė E, Puronaitė R, Masiulienė R, Vaišnorė R, Bratčikovienė N, Valevičienė N, Barysienė J, Jakaitienė A, Preikšaitienė E. Žebrauskienė D, et al. Among authors: preiksaitiene e. Genes (Basel). 2025 Sep 16;16(9):1090. doi: 10.3390/genes16091090. Genes (Basel). 2025. PMID: 41010036 Free PMC article.
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.
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.
58 results