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1,094 results on '"Thalassemia genetics"'

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1. Prevalence of thalassaemia among childbearing-age Li and Han populations in Hainan Province.

2. Whole Blood Transcriptome Analysis in Congenital Anemia Patients.

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3. Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

4. Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

5. Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh.

6. Global Globin Network and adopting genomic variant database requirements for thalassemia.

7. Genome-wide methylation and gene-expression analyses in thalassemia.

9. Regulation of N 6 -methyladenosine modification in erythropoiesis and thalassemia.

10. Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.

11. Retrospective study on the distribution of hemoglobinopathies in Karnataka-A laboratory experience.

12. Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.

13. Global distribution of β-thalassemia mutations: An update.

14. Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

15. Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

16. Detecting rare thalassemia in children with anemia using third-generation sequencing.

17. OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia.

18. εγ-Thalassemia, a New Hemoglobinopathy Category.

19. Duality of Nrf2 in iron-overload cardiomyopathy.

20. Direct correction of haemoglobin E β-thalassaemia using base editors.

22. Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations.

23. A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB :c.10-_11delinsAA] causing elevated Hb A 2 level.

24. The population incidence of thalassemia gene variants in Baise, Guangxi, P. R. China, based on random samples.

26. NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.

27. Co-Treatment of Erythroid Cells from β-Thalassemia Patients with CRISPR-Cas9-Based β 0 39-Globin Gene Editing and Induction of Fetal Hemoglobin.

28. Genetic testing of sperm donors at a human sperm bank in China.

29. RANK/RANKL/OPG axis genes relation to cognitive impairment in children with transfusion-dependent thalassemia: a cross-sectional study.

30. Antibody response to BNT162b2 SARS-CoV-2 mRNA vaccine is not influenced by AB0 blood group in subjects with transfusion-dependent thalassemia.

31. Hurdles to the Adoption of Gene Therapy as a Curative Option for Transfusion-Dependent Thalassemia.

33. Identification of the β thalassemia allele β -50 and analysis of the hematology data of carriers in a southern Chinese population.

35. Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.

36. Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.

37. Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China.

38. Thalassemia, a human blood disorder.

39. Compounded with hemoglobin Port Phillip and -α 4.2 or -- SEA deletions were identified in Chinese population.

40. δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

41. Anemia at Altitude: Thalassemia, Sickle Cell Disease, and Other Inherited Anemias.

42. [Rare thalassemia caused by novel nucleotide variants in the globin gene: four case reports and literature review].

43. Sickle Cell Disease in Jordan: The Experience of a Major Referral Center.

44. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

45. A Southeast Asian Perspective on the COVID-19 Pandemic: Hemoglobin E (HbE)-Trait Confers Resistance Against COVID-19.

46. Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis.

47. Thalassemia.

48. Curative in vivo hematopoietic stem cell gene therapy of murine thalassemia using large regulatory elements.

49. Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.

50. Spectroscopic Evaluation of Red Blood Cells of Thalassemia Patients with Confocal Microscopy: A Pilot Study.