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1. Association of mutation profiles with metastasis in patients with non-small cell lung cancer.

2. Eight EDA mutations in Chinese patients with tooth agenesis and genotype–phenotype analysis.

3. Early‐Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

4. Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.

5. Mugen-UMAP: UMAP visualization and clustering of mutated genes in single-cell DNA sequencing data.

6. Comparative analysis of PD-L1 expression and molecular alterations in primary versus metastatic lung adenocarcinoma: a real-world study in China.

7. Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study.

8. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.

9. Assessment of the In Vitro Phosphatidylinositol Glycan Class A (PIG-A) Gene Mutation Assay Using Human TK6 and Mouse Hepa1c1c7 Cell Lines.

10. Depiction of the Genetic Alterations and Molecular Landscapes of Thymic Epithelial Tumors: A Systematic Review and Meta-Analysis.

11. DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature.

12. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.

13. A case report and literature review on TP53 gene mutation in a bladder rhabdomyosarcoma patient.

14. 诱导化疗时外周血原始细胞清除时间和初诊时白蛋白水平与急性髓系白血病患者基因突变及预后之间的关系.

15. The application of targeted RNA sequencing for the analysis of fusion genes, gene mutations, IKZF1 intragenic deletion, and CRLF2 overexpression in acute lymphoblastic leukemia.

16. 临床 ⅠA 期肺腺癌的基因突变特征 及其与患者长期预后的关系.

17. First report of X-ray induced somatic mutation by Muller's department chair fails to support Muller's linearity hypothesis.

18. 1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.

19. 甜味蛋白monellin高甜度、强热稳定性突变体的分子构建及性质研究.

20. Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.

21. Role of genes in the pathogenesis of keratoconus

22. Agreement between Phenotypically Detected Linezolid Resistance and Mutations in rrl and rplC Genes of Mycobacterium tuberculosis Isolates Using Nanopore Sequencing

23. Mugen-UMAP: UMAP visualization and clustering of mutated genes in single-cell DNA sequencing data

24. Assessment of the In Vitro Phosphatidylinositol Glycan Class A (PIG-A) Gene Mutation Assay Using Human TK6 and Mouse Hepa1c1c7 Cell Lines

25. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China

26. Recurrent Cerebral Venous Sinus Thrombosis Occurred in an Acute Lymphoblastic Leukemia Child with Mutated Lipoprotein Lipase Gene during Asparaginase Therapy

27. 1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival

28. Factors Influencing Biochemical Progression in Distant Metastatic Papillary Thyroid Carcinoma

29. Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research

30. Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.

31. Clinicopathological features of endometriosis-associated adenocarcinoma of the rectum: A report of two cases.

32. MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report

33. Gene mutations and their relationship with clinical features in 100 patients with myelodysplastic syndrome

34. A term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report

35. Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants

36. A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia

37. Advances in genetic characterization and genes of juvenile open angle glaucoma

38. Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions

39. Advances in Targeted Therapy for Malignant Pleural Mesothelioma

40. Variant Analysis in LDLR Gene Uncovers Genetic Basis of Familial Hypercholesterolemia: A Case Report

41. Novel PRKAR1A mutation in Carney complex: a case report and literature review.

42. Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

43. Development of a nine-variant reference material panel to standardize cell-free DNA detection.

44. MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report.

45. Can prothrombotic gene variants and Apoa1 rs5069 polymorphism be the predictors of early myocardial infarctions?

46. 多梳抑制性去泛素化酶复合物的结构与功能及其在血液肿瘤发生发展中的作用.

47. Clinical prognostic value of different NPM1 mutations in acute myeloid leukemia patients.

48. Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

49. 海南省埃及伊蚊抗药性测定及击倒抗性基因V1016G和F1534C突变.

50. Nephrotic Syndrome in a Child With NPHS2 Mutation.

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