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Page 1
Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.
Genet Couns. 2012;23(4):505-11.
Genet Couns. 2012.
PMID: 23431752
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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One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A.
Litvinenko I, et al. Among authors: kirov av.
J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28.
J Child Neurol. 2014.
PMID: 23449687
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