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

Year Number of Results
2006 1
2007 1
2009 1
2011 4
2012 5
2013 3
2014 8
2015 9
2016 8
2017 6
2018 5
2019 3
2020 10
2021 2
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57 results
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Page 1
Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.
Parperis K, Letsos K, Loizidou MA, Hadjisavvas A, Tanteles GA. Parperis K, et al. Among authors: tanteles ga. Rheumatology (Oxford). 2020 May 16:keaa236. doi: 10.1093/rheumatology/keaa236. Online ahead of print. Rheumatology (Oxford). 2020. PMID: 32415769 No abstract available.
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
Lambrianides S, Nicolaou P, Michaelidou M, Kakouris P, Votsi C, Petrou PP, Drousiotou A, Minaidou A, Demetriou P, Voulgaris C, Christodoulou K, Tanteles GA, Pantzaris M. Lambrianides S, et al. Among authors: tanteles ga. J Neurol Sci. 2020 Nov 15;418:117101. doi: 10.1016/j.jns.2020.117101. Epub 2020 Aug 18. J Neurol Sci. 2020. PMID: 32866815 No abstract available.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Among authors: tanteles ga. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles GA. Evie Kritioti, et al. Among authors: tanteles ga. Eur J Med Genet. 2020 Jul;63(7):103939. doi: 10.1016/j.ejmg.2020.103939. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360765 Free article. Review.
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