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Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management by Joanne Traeger-Synodinos, Christina Vrettou, Christalena Sofocleous, Matteo Zurlo, Alessia Finotti, Roberto Gambari
Published 2024-03-01
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Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited by Christos Kattamis, Myrto Skafida, Polyxeni Delaporta, Christina Vrettou, Joanne Traeger-Synodinos, Christalena Sofocleous, Antonis Kattamis
Published 2022-03-01
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PB2532: VARIABLE HEMATOLOGICAL AND CLINICAL PHENOTYPES IN DOUBLE HETEROZYGOTES OF ΒETA-THALASSEMIA AND TRIPLICATED ΑLPHA-GLOBIN GENES by Polyxeni Delaporta, Christina Vrettou, Vasiliki Chouliara, Maria-Ioanna Chatzieleftheriou, Dimitra Kyriakopoulou, Maria Moraki, Joanne Traeger-Synodinos, Antonis Kattamis
Published 2023-08-01
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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases by Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra, Maria Svingou, Kyriaki Kekou, Anastasios Mitrakos, Maria Tzetis, Konstantina Kosma, Periklis Makrythanasis, Joanne Traeger-Synodinos, Christalena Sofocleous
Published 2023-07-01
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A Greek National Cross-Sectional Study on Myotonic Dystrophies by Georgios K. Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos
Published 2022-12-01
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