Medicine & Life Sciences

1. Shwachman-Diamond Syndrome 100%
2. Mutation 55%
3. Genetic Testing 41%
4. Canada 40%
5. Ontario 39%
6. Neonatal Screening 35%
7. Phenotype 34%
8. Exons 32%
9. non-Bruton type Agammaglobulinemia 31%
10. Metabolic Diseases 31%
11. Genes 31%
12. Mothers 30%
13. Potocki-Lupski syndrome 30%
14. Osteopathia striata cranial sclerosis 29%
15. Child 29%
16. protein-tyrosine sulfotransferase 29%
17. Muenke Syndrome 28%
18. Vesicle-Associated Membrane Protein 1 27%
19. Spastic Ataxia 26%
20. Parents 26%
21. Biotinidase 25%
22. Nonsense Codon 25%
23. Biotinidase Deficiency 25%
24. Kabuki syndrome 25%
25. CHARGE Syndrome 23%
26. Familial Hypertrophic Cardiomyopathy 23%
27. Chromosomes 23%
28. Choanal Atresia 23%
29. Haplotypes 22%
30. Hereditary Spastic Paraplegia 22%
31. Spinocerebellar Degenerations 21%
32. Synostosis 21%
33. Chromosomes, Human, Pair 7 21%
34. Heterozygote 21%
35. Newfoundland and Labrador 20%
36. Psychoanalysis 20%
37. Bone Marrow Failure Disorders 20%
38. Agammaglobulinemia 20%
39. Muscular Dystrophies 17%
40. Myofibrillar Myopathy 17%
41. Hypertrophic Cardiomyopathy 17%
42. Myelodysplastic Syndromes 16%
43. Intellectual Disability 16%
44. Penetrance 15%
45. Epilepsy 15%
46. Alleles 14%
47. Haploinsufficiency 14%
48. Inborn Genetic Diseases 14%
49. Psychotic Disorders 14%
50. Guidelines 13%