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

Year Number of Results
1993 2
1994 2
1998 1
2001 2
2002 4
2003 4
2004 1
2005 3
2006 3
2007 4
2008 3
2009 5
2010 6
2011 1
2012 4
2013 3
2014 1
2015 1
2016 3
2017 5
2018 1
2019 4
2020 15
2021 12
2022 7
2023 6
2024 5

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95 results

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Page 1
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: evangeliou a. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
A proposal for implementation of the chest pain unit model in Greece.
Tzikas S, Boulmpou A, Bakogiannis C, Evangeliou AP, Papadopoulos CE, Vassilikos V, Zafeiropoulos S, Hamilos M, Noutsias M, Tsigkas G, Kanakakis I, Keller T. Tzikas S, et al. Among authors: evangeliou ap. Hellenic J Cardiol. 2021 Jul-Aug;62(4):304-305. doi: 10.1016/j.hjc.2020.07.006. Epub 2020 Aug 8. Hellenic J Cardiol. 2021. PMID: 32781304 Free article. No abstract available.
Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders.
Papadopoulou MT, Karageorgiou E, Kechayas P, Geronikola N, Lytridis C, Bazinas C, Kourampa E, Avramidou E, Kaburlasos VG, Evangeliou AE. Papadopoulou MT, et al. Among authors: evangeliou ae. Children (Basel). 2022 Jul 31;9(8):1155. doi: 10.3390/children9081155. Children (Basel). 2022. PMID: 36010046 Free PMC article.
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: evangeliou ae. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
95 results