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1دورية 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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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