周 言穎

Medicine & Life Sciences

1. Mutation 99%
2. Whole Exome Sequencing 85%
3. Genes 57%
4. Enzyme Replacement Therapy 54%
5. phthalic acid 48%
6. Phenotype 46%
7. Exome 43%
8. Precocious Puberty 41%
9. Hypophosphatemic Rickets 40%
10. Silver-Russell Syndrome 39%
11. Methylation 35%
12. Neonatal-onset citrullinemia type 2 34%
13. Osteogenesis Imperfecta 31%
14. Exons 30%
15. Puberty 30%
16. Thyroxine 28%
17. Intellectual Disability 28%
18. Inborn Genetic Diseases 28%
19. Sequence Deletion 27%
20. Thyrotropin 27%
21. Disorders of Sex Development 26%
22. Pediatric Obesity 25%
23. Isolated Follicle-stimulating hormone deficiency 24%
24. Ciliopathies 24%
25. Type 1 Diabetes Mellitus 23%
26. Multiplex Polymerase Chain Reaction 23%
27. Newborn Infant 23%
28. Premature Infants 23%
29. Fraser Syndrome 21%
30. Chromosome 21 monosomy 21%
31. Chromosomes, Human, Pair 7 20%
32. Chromosome 9p Deletion Syndrome 20%
33. Campomelic Dysplasia 20%
34. DNA Methylation 20%
35. Codon 20%
36. human GAA protein 20%
37. Type A Niemann-Pick Disease 20%
38. Coenzyme Q10 Deficiency 20%