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Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis.
Prenat Diagn. 2011 Jun;31(6):571-7. doi: 10.1002/pd.2750. Epub 2011 Mar 29.
Prenat Diagn. 2011.
PMID: 21448863
A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].
Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C.
Konialis C, et al. Among authors: sevastidou s.
Hemoglobin. 2012;36(6):586-8. doi: 10.3109/03630269.2012.736442. Epub 2012 Oct 29.
Hemoglobin. 2012.
PMID: 23106651
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