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Molecular Cytogenetics|November 27, 2014
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVSMarios Ioannides, Elisavet A Papageorgiou, Anna Keravnou, et al.
European Journal of Medical Genetics|March 1, 2011
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic featuresPanagiota Grigori, Elena Panayiotou, Carolina Sismani, et al.
European Journal of Medical Genetics|November 14, 2007
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGHSofia Kitsiou-Tzeli, Carolina Sismani, George Koumbaris, et al.
Biomed Research International|April 5, 2013
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literaturePaola Evangelidou, Angelos Alexandrou, Maria Moutafi, et al.
Gene|March 27, 2012
Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiencyVassos Neocleous, Carolina Sismani, Christos Shammas, et al.
European Journal of Medical Genetics|December 30, 2006
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletionSofia Kitsiou-Tzeli, Carolina Sismani, Marios Ioannides, et al.
Molecular Cytogenetics|July 23, 2008
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotypeCarolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, et al.
Journal of Cardiopulmonary Rehabilitation and Prevention|June 11, 2013
Evaluation of the psychometric properties of the Greek version of the Minnesota Living With Heart Failure questionnaireEkaterini Lambrinou, Fotini Kalogirou, Demetris Lamnisos, et al.
American Journal of Medical Genetics. Part A|September 9, 2024
Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial studyConstantinos Patsalis, Skevi Kyriakou, Michaella Georgiadou, et al.
Plos One|February 4, 2017
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplicationsMaria C Neofytou, Kyriakos Tsangaras, Elena Kypri, et al.
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