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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 6, 2007
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndromeS Voutoufianakis, S Psoni, P Vorgia, et al.
Human Genetics|April 17, 1998
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probandsJ Traeger-Synodinos, N Mavroidis, E Kanavakis, et al.
American Journal of Hematology|October 28, 1999
Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]I Papassotiriou, J Traeger-Synodinos, D Promé, et al.
Clinical Genetics|May 11, 2007
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitisM Tzetis, M Kaliakatsos, M Fotoulaki, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|January 24, 2007
Steroid hormones polymorphisms and cholelithiasis in Greek populationS Kitsiou-Tzeli, E Giannatou, I Spanos, et al.
Human Reproduction (Oxford, England)|November 10, 2021
The impact of maternal age on gene expression during the GV to MII transition in euploid human oocytesP Ntostis, D Iles, G Kokkali, et al.
Hemoglobin|September 7, 2000
Molecular studies of beta-thalassemia heterozygotes with raised Hb F levelsC Vrettou, E Kanavakis, J Traeger-Synodinos, et al.
Pediatric Hematology and Oncology|January 5, 2002
Gilbert syndrome associated with beta-thalassemiaM Tzetis, E Kanavakis, A Tsezou, et al.
British Journal of Haematology|November 1, 1993
A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemiaG W Hall, S L Thein, A C Newland, et al.
In Vivo (Athens, Greece)|November 5, 2004
Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome featuresS Kitsiou-Tzeli, A Kolialexi, H Fryssira, et al.
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