小崎 健次郎

Medicine & Life Sciences

1. Mutation 100%
2. Genes 51%
3. Phenotype 49%
4. Intellectual Disability 41%
5. CHARGE Syndrome 33%
6. Exome 24%
7. Exons 20%
8. Whole Exome Sequencing 18%
9. Japan 17%
10. Haploinsufficiency 17%
11. Missense Mutation 16%
12. Megalencephaly 16%
13. Alleles 16%
14. Muscle Hypotonia 15%
15. Neurofibromatosis 1 14%
16. Coloboma 13%
17. Cleft Palate 12%
18. Noonan Syndrome 12%
19. Microcephaly 11%
20. Undiagnosed Diseases 11%
21. Neurodevelopmental Disorders 11%
22. Zebrafish 11%
23. Proteins 10%
24. Left-Right Axis Malformations 10%
25. Cleidocranial Dysplasia 10%
26. Brain 10%
27. High Pressure Liquid Chromatography 10%
28. Siblings 9%
29. Chromosomes 8%
30. Craniosynostoses 8%
31. Hearing Loss 8%
32. Angelman Syndrome 8%
33. Induced Pluripotent Stem Cells 8%
34. Mothers 8%
35. Rare Diseases 8%
36. Genome 8%
37. Penis agenesis 8%
38. Rubinstein-Taybi Syndrome 7%
39. Silver-Russell Syndrome 7%
40. Marfan Syndrome 7%
41. Seizures 7%
42. Atrophy 7%
43. Documentation 7%
44. Frameshift Mutation 7%
45. Skin 7%
46. Periventricular Nodular Heterotopia 7%
47. SARS Virus 7%
48. Kabuki syndrome 7%
49. Eye 7%
50. Fathers 7%