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Page 1
Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.
J Pediatr. 2016 Dec;179:263-265. doi: 10.1016/j.jpeds.2016.08.065. Epub 2016 Sep 15.
J Pediatr. 2016.
PMID: 27640350
Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.
Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI.
Avdjieva-Tzavella DM, et al. Among authors: todorova ap.
Genet Couns. 2012;23(4):505-11.
Genet Couns. 2012.
PMID: 23431752
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BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Avdjieva-Tzavella DM, Todorova AP, Kathom H M, Ivanova MB, Yordanova IT, Todorov TP, Litvinenko IO, Dasheva-Dimitrova AT, Tincheva RS.
Avdjieva-Tzavella DM, et al. Among authors: todorova ap.
Genet Couns. 2016;27(4):495-501.
Genet Couns. 2016.
PMID: 30226969
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.
Suls A, et al.
Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
Am J Hum Genet. 2013.
PMID: 24207121
Free PMC article.
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First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, Tincheva RS.
Avdjieva-Tzavella DM, et al. Among authors: todorova ap.
Genet Couns. 2014;25(3):271-6.
Genet Couns. 2014.
PMID: 25365849
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