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

Year Number of Results
2002 2
2003 2
2005 2
2006 2
2007 3
2008 3
2009 4
2010 5
2011 1
2012 2
2013 2
2014 1
2015 1
2016 3
2017 4
2018 1
2019 3
2020 9
2021 6
2022 7
2023 5
2024 2

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61 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.
Clinical Applications of Intravenous Immunoglobulins in Child Neurology.
Gogou M, Papadopoulou-Alataki E, Spilioti M, Alataki S, Evangeliou A. Gogou M, et al. Among authors: evangeliou a. Curr Pharm Biotechnol. 2017 Nov 10;18(8):628-637. doi: 10.2174/1389201018666170915123700. Curr Pharm Biotechnol. 2017. PMID: 28914199 Review.
Cardiac Manifestations in Children with Inborn Errors of Metabolism.
Papadopoulou-Legbelou K, Gogou M, Evangeliou A. Papadopoulou-Legbelou K, et al. Among authors: evangeliou a. Indian Pediatr. 2017 Aug 15;54(8):667-673. doi: 10.1007/s13312-017-1131-1. Indian Pediatr. 2017. PMID: 28891481 Free article. Review.
Childhood malignant diseases: which is the carnitine's role?
Rogalidou ME, Stiakaki E, Evangeliou A, Kalmanti M. Rogalidou ME, et al. Among authors: evangeliou a. J Pediatr Hematol Oncol. 2007 May;29(5):291-2. doi: 10.1097/MPH.0b013e318055644b. J Pediatr Hematol Oncol. 2007. PMID: 17483703 Review. No abstract available.
61 results