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Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population
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Acta Med Port. 2023 Feb 1;36(2):81-87. doi: 10.20344/amp.17584. Epub 2022 Sep 23.
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Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P et al
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Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
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Haematologica. 2023 Jun 15. doi: 10.3324/haematol.2023.282913.
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Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
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Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity.
Manco L, Pereira J, Fidalgo T, Cunha M, Pinto-Gouveia J, Padez C, Palmeira L.
Eur J Med Genet. 2023 Apr;66(4):104728. doi: 10.1016/j.ejmg.2023.104728. Epub 2023 Feb 10. PMID: 36775011.
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Delphi consensus on recommendations for the clinical management of Ph+ acute lymphoblastic leukemia patients
Josep M. Ribera, María T. Gómez-Casares, Rosa Ayala-Díaz, Margarida Coucelo, Pau Montesinos, Dolors Colomer, Mayte Olave, Pere Barba, Mi Kwon, Fernanda M. Trigo, et al
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A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
Minaidou A, Tamana S, Stephanou C, Xenophontos M, Harteveld CL, Bento C, Kleanthous M, Kountouris P.
Int J Mol Sci. 2022 Dec 14;23(24):15920. doi: 10.3390/ijms232415920. PMID: 36555557; PMCID: PMC9782104.
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The Challenging Management of Acute Thrombotic Microangiopathy in Pregnancy.
Marques B, Nora C, Coelho D, Martinho P, Fidalgo T, Gomes M, Ribeiro L, Geraldes C, Carda JP
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ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinop
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA et al
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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC;
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