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

Year Number of Results
1994 3
1998 1
1999 1
2000 1
2001 2
2002 1
2003 1
2004 2
2005 5
2006 2
2008 1
2009 1
2011 1
2012 1
2013 1
2014 3
2015 1
2016 5
2017 1
2018 2
2019 1
2020 4
2021 1
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40 results
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Page 1
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Malekkou A, et al. Among authors: drousiotou a. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943857 Free PMC article.
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: drousiotou a. 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.
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou A, Tanteles GA. Georgiou T, et al. Among authors: drousiotou a. Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. Epub 2016 Mar 30. Case Rep Genet. 2016. PMID: 27123349 Free PMC article.
The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.
Georgiou T, Christopoulos G, Anastasiadou V, Hadjiloizou S, Cregeen D, Jackson M, Mavrikiou G, Kleanthous M, Drousiotou A. Georgiou T, et al. Among authors: drousiotou a. Meta Gene. 2014 Feb 19;2:200-5. doi: 10.1016/j.mgene.2014.01.007. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606403 Free PMC article.
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A. Papachristoforou R, et al. Among authors: drousiotou a. JIMD Rep. 2014;12:91-8. doi: 10.1007/8904_2013_249. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002815 Free PMC article.
Molecular characterization of G6PD deficiency in Cyprus.
Drousiotou A, Touma EH, Andreou N, Loiselet J, Angastiniotis M, Verrelli BC, Tishkoff SA. Drousiotou A, et al. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30. doi: 10.1016/j.bcmd.2004.03.004. Blood Cells Mol Dis. 2004. PMID: 15223006
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