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Special Issue "Personalized Medicine in Blood Disease of Children".
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- Journal of Personalized Medicine, 2024, v. 14, n. 3, p. 285, doi. 10.3390/jpm14030285
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- Article
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15920, doi. 10.3390/ijms232415920
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- Article
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies.
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- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1927, doi. 10.3390/jcm8111927
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- Article
Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.
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- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-2002-x
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- Article
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
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- American Journal of Hematology, 2021, v. 96, n. 11, p. E416, doi. 10.1002/ajh.26323
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- Article
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
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- Scientific Reports, 2016, p. 26371, doi. 10.1038/srep26371
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- Article
IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0103020
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- Article
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1403, doi. 10.1038/ejhg.2013.47
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- Article
Predicting β-turns and their types usingpredicted backbone dihedral angles andsecondary structures.
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- BMC Bioinformatics, 2010, v. 11, p. 407, doi. 10.1186/1471-2105-11-407
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- Article
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
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- Biomedicines, 2024, v. 12, n. 2, p. 296, doi. 10.3390/biomedicines12020296
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- Article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
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- Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280
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- Article