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381 results

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Page 1
Diagnostic approach of angelman syndrome.
Duca DG, Craiu D, Boer M, Chirieac SM, Arghir A, Tutulan-Cunita A, Barca D, Iliescu C, Lungeanu A, Magureanu S, Budisteanu M. Duca DG, et al. Among authors: iliescu c. Maedica (Bucur). 2013 Sep;8(4):321-7. Maedica (Bucur). 2013. PMID: 24790661 Free PMC article.
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C. Craiu D, et al. Among authors: iliescu c. Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7. Eur J Paediatr Neurol. 2015. PMID: 25439737
Intellectual disability and epilepsy in down syndrome.
Barca D, Tarta-Arsene O, Dica A, Iliescu C, Budisteanu M, Motoescu C, Butoianu N, Craiu D. Barca D, et al. Among authors: iliescu c. Maedica (Bucur). 2014 Dec;9(4):344-50. Maedica (Bucur). 2014. PMID: 25705303 Free PMC article.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: iliescu c. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Practical clues for diagnosing WWOX encephalopathy.
Tarta-Arsene O, Barca D, Craiu D, Iliescu C. Tarta-Arsene O, et al. Among authors: iliescu c. Epileptic Disord. 2017 Sep 1;19(3):357-361. doi: 10.1684/epd.2017.0924. Epileptic Disord. 2017. PMID: 28721938
DMD and West syndrome.
Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L. Cardas R, et al. Among authors: iliescu c. Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19. Neuromuscul Disord. 2017. PMID: 28802771
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.
Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, Severin E, Ioana M, Arghir A. Budisteanu M, et al. Among authors: iliescu c. Genes (Basel). 2021 Jul 1;12(7):1025. doi: 10.3390/genes12071025. Genes (Basel). 2021. PMID: 34356041 Free PMC article.
Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities.
Linehan C, Benson A, Gunko A, Christensen J, Sun Y, Tomson T, Marson A, Forsgren L, Trinka E, Iliescu C, Althoehn Sonderup J, Werenberg Dreier J, Sandu C, Leanca M, Rainer L, Kobulashvili T, Granbichler CA, Delanty N, Doherty C, Staines A, Shahwan A; ESBACE Consortium and Collaborators. Linehan C, et al. Among authors: iliescu c. Epilepsia. 2021 Nov;62(11):2651-2666. doi: 10.1111/epi.17057. Epub 2021 Sep 2. Epilepsia. 2021. PMID: 34472627
381 results