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Keyword [Missense mutation]
Result: 21 - 40 | Page: 2 of 3
21. The Clinical Treatment And Pathogenic Gene Analysis Of A Chinese Family With Synpolydactyly
22. A Recurrent Missense Mutation In ZP3 Causes Empty Follicle Syndrome And Female Infertility
23. Identification Of Melanoma Driver Mutation And Construction Of Related Information Platform
24. A Preliminary Research On The Effect Of Hereditary Spastic Paraplegia Causatave Gene SLC3A1 Missense Mutation On Mitochondria
25. Dyschromatosis Symmetrica Hereditaria
26. Involvement Of VPS4B A Dentin Defects ?Causing Gene In The Pathogenesis Of Cognitive Impairments In Vps4b Knockout Mice Study On An Missense Mutation In AMBN Gene Causes Amelogenesis Imperfecta And Dentin Disorders
27. The Association Between The SCN9A Mutations With Congenital Insensitivity To Pain,and The Effect Of Nav1.7 In Acute Postoperative Pain
28. Identification And Functional Study Of Novel Pathogenic Genes Of Non-syndromic Hypodontia
29. Study On The Role And Mechanism Of SEMA3C Missense Mutation In The Occurrence And Development Of Liver Cancer
30. Clinical Analysis Of Assisted Reproductive Technology With Müllerian Duct Abnormalities Of Assisted Reproductive Technology And Gene Mutation Study
31. Association Between Positive Missense Mutation Sitesin Genome-wide Association Studies And Asthma In Guangxi Zhuang Population Of China
32. Clinical Characteristics Analysis And Pathogenic Gene Identification Of Oocyte Maturation Defect Syndrome
33. Analysis Of A Family Of Hereditary Cerebral Small Vessel Disease Caused By Heterozygous HTRA1 Missense Mutation
34. Mechanisms Of Missense Mutation Microtubule Associated Tumor Suppressor 1 (MTUS1)in The Development Of Compaction Of Ventricular Myocardium Through Microtubule-Associated Pathway
35. Genetic Analysis And Literature Review Of 6 Cases Of Hereditary Spherocytosis
36. Screening Of Pathogenic Gene Mutations And Analysis Of Transcriptional Activation Activity Of Mutated Proteins In Polydactyly Families
37. Pathogenicity Research Of Newly-detected Missense Mutation In G6PD Gene
38. A Case Of Congenital Nephrogenic Diabetes Insipidus Caused By Variant Of Aquaporin 2 And Literature Review
39. Functional Characterization Of A Novel GUCA1A Missense Mutation(D144G) In Autosomal Dominant Cone Dystrophy:A Novel Pathogenic GUCA1A Variant In COD
40. Research On Gene And Molecular Mechanism In Two Pedigrees With Wiskott-Aldrich Syndrome
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