About 116 item dissertation in line with R596,Genetic diseases query results,the following is 1 to 50(Search took 0.097 seconds)

  1. Mitochondrial genetic disease causing mutations of wet earwax with genetics osmidrosis family,ShangDanDan/Beijing Union Medical College,0/23
  2. Gene Mutation Screening of a Family with Bardet-Biedl Syndrome,HanRuoAn/Beijing Union Medical College,0/10
  3. Identification of the Genetic Basis for a Chinese Families Associated with Usher Syndrome,LiWeiRong/Huazhong University of Science and Technology,0/4
  4. The Effect of Pin1on Toxicity of Mutant Huntingtin and Its Underlying Mechanism,YuHaiXia/Huazhong University of Science and Technology,0/9
  5. The Key Members of Classical Wnt Singal Pathway Expression in the Polyp Tissue of Peutz-Jeghers Syndrome,LuXiangJi/Hebei North University,0/7
  6. The Study on Genetic Defects in a Hypofibrinogenemia Pedigree,ZhangYang/Dalian Medical University,0/11
  7. Establishment and Clinical Application of Enzyme Activity Detection Method of LSDs,HanYaZuo/Huazhong University of Science and Technology,0/7
  8. Mutation Analysis of the TSC1and TSC2Genes in Chinese Patients with Tuberous Sclerosis Complex,YouJiaBao/Jinan University,0/4
  9. The Genotypes of Non-syndromic Oculocutaneous Albinism,PengJie/Central South University,0/39
  10. Bioinformatics analysis of gene causing Vankoni's syndrome,JiaLi/Shaanxi Normal University,0/14
  11. Relationship Between Site of KIT Mutation and Clinical Phenotype on Patients with Piebaldism,LiXiYing/Southern Medical University,,0/3
  12. Mutational Spectrum of Phenylalanine Hydroxylase Gene in Ningxia Patients with Phenylketonuria,ZuoYouSheng/Ningxia Medical University,0/0
  13. Fragile X Related Protein1Target Identification and Effect the Translation of IQCE,WangSanHu/Nanhua University,0/3
  14. Clinical and Basic Studies of Werner Syndrome with Newly Identified Phenotypes,RenJun/Southern Medical University,,0/3
  15. Genetic Analysis of Bartter Syndrome and Development of Deafness Microarray,WuHong/Central South University,0/7
  16. Clinical Phenotype and Molecular Mechanism of Hereditary Hemorrhagic Telangiectasia,JiaZuoJie/The people's Liberation Army Medical Institute Chinese,0/61
  17. Pedigree Investigation and Literature Review of an Acute-intermittent-porphyria Syndrome Patient,XieXiaoChao/Dalian Medical University,0/6
  18. A Study of New EVC Splicing Mutation of Scott Ellis’s Syndrome,LuoChunYan/Huazhong University of Science and Technology,0/16
  19. Novel Pathological Mutation Screening for a Family Disorder Resembling Aarskog Syndrome,XuMingZhi/Zhejiang University,0/11
  20. Rescuing Cystic Phenotypes in Pkd2-mutated Mouse Model by Ectopic Restoration of Human PKD2,LiAo/Beijing Union Medical College,0/13
  21. Clinical and Mutation Analysis of Four Chinese Families with Von Hippel-Lindau Disease,ChenJiangMing/Anhui Medical University,,0/10
  22. Analysis of Disease Gene Mutation and Function in a Patient with Axenfeld-Rieger Syndrome,ZhangZuo/Huazhong University of Science and Technology,0/30
  23. On a 46, genetic studies in patients with poor XY complete gonadal development,ChenYingZuo/Nanjing Normal University,0/24
  24. Study of a Family with Marfan Syndrome Caused by a Novel Mutation of Fibrillin-1Gene,ZhaoFeng/Tianjin Medical University,0/30
  25. Establishment of Three Common Genetic Diseases Molecular Diagnostic Assays by Mutation Sensitive Molecular Switch,GuoZiFen/Nanhua University,0/32
  26. Part1Function of DNAH2in Fa Nconi Anemia Pathway Design and Preliminary Validation of Inherited Bone Marrow Failure Disease Diagnosis Kit,ChangLiXian/Beijing Union Medical College,0/24
  27. Investigation on Gene Mutations and Clinical Features of Marfan Syndrome among Han Population,WangXueTao/Fujian Medical,0/32
  28. Mutation Identification of Pathogenic Gene for Two Families with Limb Malformation,WangXue/Shandong University,0/27
  29. The Study of Low Fertility and Uterine Dysplasia in Pearl (Pe) Female Mouse,ZhangJingYe/Shandong University,0/34
  30. The Analysis of the Gene Mutation in Two Families with Finger (Toe) Abnormality,HeWenBin/Central South University,0/35
  31. Study on OCA Gene Mutation and Its Pathogenic Mechanism,MiaoChunYue/Jinan University,0/40
  32. Study of an X-linked Recessive Hereditary Menkes Disease in a Chinese Family,FengCuiLian/Southern Medical University,,0/44
  33. Study of the Malignant Hyperthermia RYR1Gene Mutation,WangBaiSheng/Central South University,0/56
  34. Exome Sequencing Revealed Novel Germline Mutations in Chinese Peutz-Jeghers Syndrome Patients,XieNaNa/Fujian Medical,0/82
  35. Clinical, Pathological and Molecular Biological Study on Multiple Acyl-CoA Dehydrogenase Deficiency,BaoMengZuo/Shandong University,0/112
  36. Marfan syndrome FBN1, TGFBR2 genotype phenotype association studies and statins on vascular endothelial function in the meta-analysis,ZhangLin/Beijing Union Medical College,0/129
  37. Molecular Epidemiological Investigation99G6PD Deficiency among the Zhongshan Residents and the Relationship between G6PD Deficiency and Hand-Foot-Mouth Disease Caused by Enterovirus71,OuJunBin/Southern Medical University,,0/0
  38. Genetype and Clinical Phenotype Analysis in a Cohort of43Chinese Patients with Tuberous Sclerosis Complex,ZengJiaBin/Fujian Medical,0/10
  39. Identification of the Causative Mutation for Two Families with Hereditary Neuromuscular Rare Diseases,FengYaPei/Shandong University,0/26
  40. Pathogenic gene mapping and candidate gene analysis of single gene disorders,ShiLiSong/Peking Union Medical College , China,0/237
  41. Mutational Analyses of the Cathepsin C Gene (CTSC) in the Han Nationality Families with Papillon Lefèvre Syndrome,LiXiaoFeng/Southern Medical University,,0/156
  42. The Study of Molecular Pathogenesis of Fragile X Syndrome,HeShuYa/Central South University,0/115
  43. The Study of Monoclonal Antibody and Recombinant Protein for Diagnosis and Therapy to Fabry’s Disease,XuLiJuan/PLA Military Academy of Medical Sciences,0/38
  44. Clinic Study of Peutz-Jeghers Syndrome and the Screen and Annotation of Its Related Genes,DaiYiZuo/First Military Medical University,0/114
  45. Novel α-galactosidase A Gene Mutation in a Chinese Family with Fabry Disease Mimicking Clinical Features of Hypertrophic Cardiomyopathy,LiuHeJun/Nanjing Medical University,0/53
  46. Chromosomal Localization of Cat-like Cry and Mental Retardation in 5p Deletion Syndromes and Isolation of ESTs from Related Regions,DanMeiXia/Peking Union Medical College , China,0/41
  47. The Study of Gene Diagnosis of Monogenic Diseases and It’s Application,ZhongChangGao/Central South University,0/547
  48. Mutations in DNA Methyltransferase DNMT3B in ICF Syndrome Affect Its Regulation by DNMT3L,XieZhengHua/Shanghai Institutes for Biological Sciences,0/194
  49. The Clinical Study on Tuberous Sclerosis Complex and Mutational Analysis of TSC2 in Cases of a Pedigree,ZhaoYuWu/Second Military Medical University,0/105
  50. A Novel Locus for Parietal Foramina Maps to Chromosome 4q21-23,ChenGang/Shanghai Institutes for Biological Sciences,0/78

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