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Page 1
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study; Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Among authors: ambrozaityte l. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
X-linked ichthyosis: differential diagnosis of low maternal oestriol level.
Liaugaudienė O, Benušienė E, Domarkienė I, Ambrozaitytė L, Kučinskas V. Liaugaudienė O, et al. Among authors: ambrozaityte l. J Obstet Gynaecol. 2014 Nov;34(8):737-9. doi: 10.3109/01443615.2014.925857. Epub 2014 Jun 24. J Obstet Gynaecol. 2014. PMID: 24960317 Free article. Review. No abstract available.
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: ambrozaityte l. BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9. BMC Genet. 2016. PMID: 26896187 Free PMC article.
Insights Into de novo Mutation Variation in Lithuanian Exome.
Pranckėnienė L, Jakaitienė A, Ambrozaitytė L, Kavaliauskienė I, Kučinskas V. Pranckėnienė L, et al. Among authors: ambrozaityte l. Front Genet. 2018 Aug 14;9:315. doi: 10.3389/fgene.2018.00315. eCollection 2018. Front Genet. 2018. PMID: 30154829 Free PMC article.
43 results