小崎 健次郎

Medicine & Life Sciences

1. Mutation 100%
2. Phenotype 50%
3. Genes 47%
4. Intellectual Disability 38%
5. CHARGE Syndrome 36%
6. Exome 21%
7. Exons 20%
8. Whole Exome Sequencing 17%
9. Haploinsufficiency 17%
10. Muscle Hypotonia 16%
11. Missense Mutation 16%
12. Alleles 15%
13. Neurofibromatosis 1 14%
14. Megalencephaly 13%
15. Japan 13%
16. Neurodevelopmental Disorders 12%
17. Coloboma 12%
18. Microcephaly 12%
19. Noonan Syndrome 12%
20. Cleft Palate 11%
21. Left-Right Axis Malformations 11%
22. Cleidocranial Dysplasia 11%
23. High Pressure Liquid Chromatography 11%
24. Siblings 10%
25. Craniosynostoses 9%
26. Undiagnosed Diseases 9%
27. Induced Pluripotent Stem Cells 9%
28. Penis agenesis 8%
29. Mothers 8%
30. Rubinstein-Taybi Syndrome 8%
31. Silver-Russell Syndrome 8%
32. Marfan Syndrome 8%
33. Brain 8%
34. Seizures 8%
35. Frameshift Mutation 8%
36. Periventricular Nodular Heterotopia 8%
37. Kabuki syndrome 8%
38. Platelet-Derived Growth Factor beta Receptor 7%
39. Hearing Loss 7%
40. Eye 7%
41. DiGeorge Syndrome 7%
42. Autism Spectrum Disorder 7%
43. Proteins 7%
44. Genetic Testing 7%
45. Genotype 7%
46. Progeria short stature pigmented nevi 7%
47. Nonsense Codon 7%
48. Fathers 7%
49. Angelman Syndrome 7%
50. High-Throughput Nucleotide Sequencing 6%