Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Export 13 results:
Author Title Type [ Year] Filters: Keyword is Mutation, Missense [Clear All Filters]
(2018).
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene..
Parkinsonism Relat Disord. 35, 82-87.
(2017). Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci..
Nat Genet. 49(7), 993-1004.
(2017). Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent..
Hematology. 22(5), 304-309.
(2017).
(2015).
(2014).
Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population..
Obesity (Silver Spring). 20(11), 2278-82.
(2012). Molecular and phylogenetic analysis of the haemagglutinin gene of pandemic influenza H1N1 2009 viruses associated with severe and fatal infections..
Virus Res. 151(2), 192-9.
(2010). Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis..
Brain. 133(Pt 6), 1810-22.
(2010). The effect of an exon 12 polymorphism of the human thromboxane synthase (CYP5A1) gene in stroke patients..
Med Sci Monit. 15(1), BR30-5.
(2009). Interactions of the Hdm2/p53 and proteasome pathways may enhance the antitumor activity of bortezomib..
Clin Cancer Res. 15(23), 7153-60.
(2009).
(2009).
(2005).