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Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Gawliński P, et al. Among authors: ciara e. Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. Clin Genet. 2018. PMID: 29226947
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Piekutowska-Abramczuk D, Rutyna R, Czyżyk E, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Stachowicz S, Strzemecka J, Guz W, Gawroński M, Kosierb A, Ligas J, Puchala M, Drelich-Zbroja A, Bednarska-Makaruk M, Dąbrowski W, Ciara E, Książyk JB, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: ciara e. Metab Brain Dis. 2018 Feb;33(1):191-199. doi: 10.1007/s11011-017-0122-1. Epub 2017 Nov 7. Metab Brain Dis. 2018. PMID: 29116603 Free PMC article.
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.
Skórka A, Ciara E, Gieruszczak-Białek D, Pelc M, Kugaudo M, Chrzanowska K, Krajewska-Walasek M. Skórka A, et al. Among authors: ciara e. Am J Med Genet A. 2012 Jun;158A(6):1486-8. doi: 10.1002/ajmg.a.35320. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528320 No abstract available.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Among authors: ciara e. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E. Hellerud C, et al. Among authors: ciara e. Mol Genet Metab. 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. Mol Genet Metab. 2003. PMID: 12855219
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Among authors: ciara e. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562
103 results