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

Year Number of Results
1994 1
1997 1
2002 1
2003 2
2007 1
2008 2
2011 3
2012 2
2013 2
2014 1
2015 1
2016 5
2017 1
2018 3
2021 3
2022 2
2024 0

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27 results

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Page 1
X-linked juvenile retinoschisis: phenotypic and genetic characterization.
Strupaitė R, Ambrozaitytė L, Cimbalistienė L, Ašoklis R, Utkus A. Strupaitė R, et al. Among authors: cimbalistiene l. Int J Ophthalmol. 2018 Nov 18;11(11):1875-1878. doi: 10.18240/ijo.2018.11.22. eCollection 2018. Int J Ophthalmol. 2018. PMID: 30450322 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: cimbalistiene l. 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.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: cimbalistiene l. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J. Sass JO, et al. Among authors: cimbalistiene l. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S275-9. doi: 10.1007/s10545-008-0855-4. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415700
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: cimbalistiene 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.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Petraitytė G, Mikštienė V, Siavrienė E, Cimbalistienė L, Maldžienė Ž, Rančelis T, Vaitėnienė EM, Ambrozaitytė L, Dapkūnas J, Dzindzalieta R, Pranckevičienė E, Kučinskas V, Utkus A, Preikšaitienė E. Petraitytė G, et al. Among authors: cimbalistiene l. Medicina (Kaunas). 2022 Feb 26;58(3):351. doi: 10.3390/medicina58030351. Medicina (Kaunas). 2022. PMID: 35334527 Free PMC article.
The molecular basis of phenylketonuria in Lithuania.
Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V. Kasnauskiene J, et al. Among authors: cimbalistiene l. Hum Mutat. 2003 Apr;21(4):398. doi: 10.1002/humu.9113. Hum Mutat. 2003. PMID: 12655550
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B. Inashkina I, et al. Among authors: cimbalistiene l. BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z. BMC Musculoskelet Disord. 2016. PMID: 27142102 Free PMC article.
27 results