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1دورية أكاديمية
المؤلفون: Saša Anžej Doma, Nika Kraljić, Aleša Kristan, Nataša Debeljak, Aleš Maver, Tadej Pajič, Irena Preložnik Zupan
المصدر: Frontiers in Medicine, Vol 11 (2024)
مصطلحات موضوعية: non-clonal erythrocytosis, congenital erythrocytosis, next-generation sequencing, erythropoietin, hemochromatosis, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Zdravniški Vestnik, Vol 92, Iss 3-4, Pp 173-181 (2023)
مصطلحات موضوعية: absolutna eritrocitoza, sekundarna eritrocitoza, prirojena eritrocitoza, eritropoetin, tromboze, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Aleša Kristan, Tadej Pajič, Aleš Maver, Tadeja Režen, Tanja Kunej, Rok Količ, Andrej Vuga, Martina Fink, Špela Žula, Helena Podgornik, Saša Anžej Doma, Irena Preložnik Zupan, Damjana Rozman, Nataša Debeljak
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: NGS – next-generation sequencing, erythrocytosis, targeted panel sequencing, iron metabolism, diagnostics, rare disease (RD), Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Aleša Kristan, Nataša Debeljak, Tanja Kunej
المصدر: Genes, Vol 12, Iss 11, p 1793 (2021)
مصطلحات موضوعية: EPAS1 gene, hypoxia-inducible factor (HIF), regulatory elements, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Irena Preložnik Zupan, Aleša Kristan, Nataša Debeljak, Saša Anžej Doma
المصدر: Clinical Hemorheology and Microcirculation
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Congenital erythrocytosis, Physiology, Case Report, Polycythemia, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Humans, Idiopathic erythrocytosis, DNA sequencing, Genetic testing, medicine.diagnostic_test, business.industry, Thrombosis, Hematology, medicine.disease, idiopathic erythrocytosis, Hematocrit, 030220 oncology & carcinogenesis, medicine.symptom, Cardiology and Cardiovascular Medicine, business, 030215 immunology, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd7efa984fcb76990a249329b93be82
https://doi.org/10.3233/ch-211120 -
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المؤلفون: Eva Drnovšek, Helena Podgornik, Matjaž Sever, Aleša Kristan, Nataša Debeljak, Irena Preložnik Zupan, Tanja Belčič Mikič, Saša Anžej Doma, Martina Fink
المصدر: Annals of Hematology
مصطلحات موضوعية: Adult, Male, Polycythaemia, medicine.medical_specialty, Pediatrics, Congenital erythrocytosis, Polycythemia, Idiopathic erythrocytosis, 03 medical and health sciences, 0302 clinical medicine, Phlebotomy, Internal medicine, medicine, Humans, Outpatient clinic, Retrospective Studies, Aspirin, Hematology, business.industry, Secondary erythrocytosis, Disease Management, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, medicine.disease, Algorithm, 030220 oncology & carcinogenesis, Next-generation sequencing, Etiology, Female, Original Article, business, 030215 immunology, medicine.drug
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المؤلفون: Tanja Kunej, Nataša Debeljak, Aleša Kristan
المصدر: Genes, vol. 12, no. 11, 1793, 2021.
Genes
Volume 12
Issue 11
Genes, Vol 12, Iss 1793, p 1793 (2021)مصطلحات موضوعية: Transcriptional Activation, EPAS1 gene, Genomics, Computational biology, Biology, QH426-470, Proteomics, Article, Oxygen homeostasis, hipoksija, Genetics, Basic Helix-Loop-Helix Transcription Factors, Ensembl, Humans, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), MiRTarBase, Polymorphism, Genetic, EPAS1 gen, EPAS1 Gene, EPAS1, Computational Biology, HIF1A, hypoxia-inducible factor (HIF), genetika, udc:61:575, regulatory elements, Protein Processing, Post-Translational, medicina
وصف الملف: application/pdf; text/url
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8
المؤلفون: Nataša Debeljak, Tanja Kunej, Aleša Kristan
المصدر: European Journal of Haematology. 103:287-299
مصطلحات موضوعية: Genetics, EPAS1 Gene, Genetic Variation, EPAS1, Genomics, Polycythemia, Hematology, General Medicine, Biology, Hypoxia-Inducible Factor 1, alpha Subunit, Genome, Repressor Proteins, HIF3A, Exon, Databases, Genetic, Basic Helix-Loop-Helix Transcription Factors, Humans, Erythropoiesis, Genetic Predisposition to Disease, Genetic variability, Apoptosis Regulatory Proteins, Gene, Genetic Association Studies
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9
المؤلفون: Aleša Kristan, Andrej Vuga, Rok Količ, Saša Anžej Doma, Tadeja Režen, Irena Preložnik Zupan, Špela Žula, Martina Fink, Jernej Gašperšič, Tadej Pajič, Helena Podgornik, Tanja Kunej, Nataša Debeljak
المصدر: Journal of Clinical Laboratory Analysis
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microbiology (medical), Heterozygote, sequence analysis, Sequence analysis, Slovenia, Clinical Biochemistry, Inheritance Patterns, Polycythemia, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Genetic analysis, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetic variation, erythrocytosis, medicine, Humans, Immunology and Allergy, Missense mutation, Family, Genetic Predisposition to Disease, Gene, Research Articles, Genetic Association Studies, Aged, Genetics, Mutation, Base Sequence, Biochemistry (medical), Public Health, Environmental and Occupational Health, Intron, Computational Biology, DNA, Hematology, Pedigree, Medical Laboratory Technology, 030104 developmental biology, haemochromatosis, 030220 oncology & carcinogenesis, Hereditary hemochromatosis, genetic variation, Female, Hemochromatosis, Research Article
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المصدر: Blood Transfus
مصطلحات موضوعية: Oxygen, Hemoglobins, hemic and lymphatic diseases, Mutation, Humans, Polycythemia, Other, Erythropoietin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8ea78a324b396a3f546a116f3500cac6
https://pubmed.ncbi.nlm.nih.gov/33370224