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Blood, ISSN 0006-4971, 2016, Volume 127, Issue 23, pp. 2809 - 2813
Journal Article
International Journal of Laboratory Hematology, ISSN 1751-5521, 05/2016, Volume 38, Issue S1, pp. 32 - 40
Journal Article
Clinical Chemistry, ISSN 0009-9147, 10/2017, Volume 63, Issue 10, pp. 1614 - 1623
BACKGROUND: There is much interest in the tissue of origin of circulating DNA in plasma. Data generated using DNA methylation markers have suggested that... 
ANEUPLOIDY | NONINVASIVE PRENATAL-DIAGNOSIS | BARR-VIRUS DNA | RAPID CLEARANCE | BLUEPRINT | EPIGENETIC SIGNATURE | CLASSIFICATION | FETAL DNA | MEDICAL LABORATORY TECHNOLOGY | CANCER | BLOOD | Erythropoiesis | beta-Thalassemia - pathology | Anemia - blood | Humans | Erythroblasts - metabolism | beta-Thalassemia - genetics | Anemia - pathology | Myelodysplastic Syndromes - blood | Anemia, Aplastic - blood | Anemia, Iron-Deficiency - blood | DNA - blood | Anemia, Aplastic - diagnosis | Anemia - genetics | DNA Methylation | Anemia, Aplastic - genetics | beta-Thalassemia - blood | Anemia, Aplastic - pathology | Diagnosis, Differential | Anemia - diagnosis | beta-Thalassemia - diagnosis | DNA - genetics | Myelodysplastic Syndromes - diagnosis | Anemia, Iron-Deficiency - diagnosis | Anemia, Iron-Deficiency - genetics | Anemia, Iron-Deficiency - pathology | Ferrochelatase - genetics | Myelodysplastic Syndromes - genetics | Myelodysplastic Syndromes - pathology | Erythroblasts - pathology | Genetic aspects | Diagnosis | Anemia | Erythrocytes | Iron | Blood | Blood plasma | Etiology | Lymphocytes | DNA methylation | Bone marrow | Differential diagnosis | Signatures | Deoxyribonucleic acid--DNA | Quantitative analysis | Nutrient deficiency | Ferrochelatase | Neutrophils | Aplastic anemia | Thalassemia | Patients | Loci | Hemopoiesis | Polymerase chain reaction | Erythroblasts | Epigenetics | Biomarkers | Methylation | Plasmas (physics)
Journal Article
by Woo, EJ and Lee, WJ and Hu, KS and Hwang, JJ
PLOS ONE, ISSN 1932-6203, 10/2015, Volume 10, Issue 10, p. e0140901
.... Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease... 
MULTIPLE EPIPHYSEAL DYSPLASIA | ACHONDROPLASIA | HUMERUS VARUS | CHONDRODYSTROPHIC DWARFISM | TUBERCULOSIS | MULTIDISCIPLINARY SCIENCES | THALASSEMIA | GENETIC-HETEROGENEITY | LYSOSOMAL STORAGE DISORDERS | FEATURES | MANIFESTATIONS | Thalassemia - diagnosis | Limb Deformities, Congenital - genetics | Paleontology - methods | Humans | Middle Aged | Tomography, X-Ray Computed | Bone Diseases, Developmental - genetics | Dwarfism - diagnosis | Lordosis - diagnosis | Lysosomal Storage Diseases - diagnosis | Lordosis - genetics | Paleopathology - methods | Osteochondrodysplasias - genetics | Adult | Female | Thalassemia - genetics | Bone Diseases, Developmental - diagnosis | Republic of Korea | Achondroplasia - genetics | Achondroplasia - diagnosis | Lysosomal Storage Diseases - genetics | Musculoskeletal Abnormalities | Osteochondrodysplasias - diagnosis | Dwarfism - genetics | Limb Deformities, Congenital - diagnosis | Radiometric Dating | Archaeology - methods | Bone and Bones - abnormalities | Dwarfism | Complications and side effects | Dysplasia | Care and treatment | Usage | Research | Risk factors | Paleopathology | Congenital diseases | Deformation | Laboratories | Anemia | Developmental biology | Thalassemia | Cultural heritage | Dentistry | Chondrodystrophy | Achondroplasia | Hypochondroplasia | Hemolytic anemia | Tuberculosis | Computed tomography | Cemeteries | Etiology | Bone dysplasia | Bones | Skeleton | Diagnosis
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2013, Volume 77, Issue 2, pp. 115 - 124
...), suitable for the development of noninvasive prenatal diagnosis (NIPD) of β‐thalassaemia. SNP genotyping analysis was performed on 75 random samples from the Cypriot population for 140 SNPs across the β‐globin cluster... 
SNPs | noninvasive prenatal diagnosis | haplotype | maternal plasma | β‐thalassaemia | Maternal plasma | Noninvasive prenatal diagnosis | β-thalassaemia | Haplotype | AMNIOCENTESIS | thalassaemia | ASSAY | FETAL DNA | GENETICS & HEREDITY | MONOGENIC DISEASES | MUTATIONS | POINT | SELECTION | PCR | CELL-FREE DNA | Haplotypes | Pregnancy | Humans | beta-Thalassemia - genetics | Female | Heterozygote | Polymorphism, Single Nucleotide | Prenatal Diagnosis - methods | beta-Globins - genetics | beta-Thalassemia - diagnosis
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 326 - 339
Journal Article
Journal of Thermal Analysis and Calorimetry, ISSN 1388-6150, 11/2018, Volume 134, Issue 2, pp. 1299 - 1306
Thermogravimetry coupled with chemometrics has proved to be a rapid and cost-effective diagnostic tool for -thalassemia screening. This model, consisting of... 
Screening | Thalassemia | Aspirin | Thermogravimetric analysis | Chemometrics | HEMOGLOBIN | CHEMISTRY, ANALYTICAL | BIOMIMETIC COMPLEXES | DIVALENT COBALT | PREVENTION | DECOMPOSITION | CHEMISTRY, PHYSICAL | EGA-MS | THERAPY | THERMODYNAMICS | THROMBOEMBOLISM | BETA-THALASSEMIA
Journal Article