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

Year Number of Results
2003 1
2009 3
2010 6
2011 1
2012 2
2013 1
2014 3
2015 6
2016 9
2017 9
2018 8
2019 7
2020 13
2021 7
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64 results
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Page 1
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: ciara e. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: ciara e. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Jezela-Stanek A, Ciara E, Jurkiewicz D, Kucharczyk M, Jędrzejowska M, Chrzanowska KH, Krajewska-Walasek M, Żemojtel T. Jezela-Stanek A, et al. Among authors: ciara e. Mol Genet Genomic Med. 2020 Sep;8(9):e1263. doi: 10.1002/mgg3.1263. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337850 Free PMC article.
POLG gene mutation. Clinico-neuropathological study.
Tarka S, Laure-Kamionowska M, Wierzba-Bobrowicz T, Witulska K, Ciara E, Szymańska K, Krajewski P, Stępień T, Acewicz A, Felczak P. Tarka S, et al. Among authors: ciara e. Folia Neuropathol. 2020;58(4):386-392. doi: 10.5114/fn.2020.102441. Folia Neuropathol. 2020. PMID: 33480243 Free article.
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: ciara e. Genes (Basel). 2019 Nov 21;10(12):959. doi: 10.3390/genes10120959. Genes (Basel). 2019. PMID: 31766579 Free PMC article.
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Jankowska I, et al. Among authors: ciara e. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101408. doi: 10.1016/j.clinre.2020.02.018. Epub 2020 Apr 8. Clin Res Hepatol Gastroenterol. 2021. PMID: 32278775
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
Lipiński P, Jurkiewicz D, Ciara E, Płoski R, Więcek S, Bogdańska A, Stradomska T, Socha P, Rokicki D, Tylki-Szymańska A, Jankowska I. Lipiński P, et al. Among authors: ciara e. Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202. Acta Biochim Pol. 2020. PMID: 32436673 Free article.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Among authors: ciara e. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 Free PMC article.
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