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International Journal of Molecular Sciences|January 25, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation SequencingStefania Byrou, Rutger W W Brouwer, Marios Tomazou, et al.
Clinical Chemistry and Laboratory Medicine|August 14, 2010
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemiaChristos Shammas, Thessalia Papasavva, Xenia Felekis, et al.
Elife|December 1, 2022
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathiesStella Tamana, Maria Xenophontos, Anna Minaidou, et al.
BMC Research Notes|April 3, 2016
Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in CyprusThessalia Papasavva, Pete Martin, Tobias J Legler, et al.
Haematologica|May 23, 2020
2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalanceAlisa Dong, Valentina Ghiaccio, Irene Motta, et al.
Pharmacogenomics|October 13, 2012
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patientsJoseph Borg, Marios Phylactides, Marina Bartsakoulia, et al.
Database : the Journal of Biological Databases and Curation|September 4, 2024
Global Globin Network and adopting genomic variant database requirements for thalassemiaHashim Halim-Fikri, Ninie Nadia Zulkipli, Hafiza Alauddin, et al.
Scientific Reports|May 21, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective studyPetros Kountouris, Ioanna Kousiappa, Thessalia Papasavva, et al.
Hemoglobin|August 7, 2009
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET projectCarsten W Lederer, A Nazli Basak, Yesim Aydinok, et al.
Journal of Personalized Medicine|April 23, 2022
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 CountriesBin Hashim Halim-Fikri, Carsten W Lederer, Atif Amin Baig, et al.
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