Medicine & Life Sciences
Neonatal Screening
100%
Telomeric 22q13 Monosomy Syndrome
98%
Mutation
86%
Congenital Disorders of Glycosylation
85%
Autism Spectrum Disorder
83%
Fabry Disease
74%
Gaucher Disease
73%
cerliponase alfa
63%
Focal facial dermal dysplasia
59%
17-Hydroxysteroid Dehydrogenase Deficiency
59%
Ceroid Lipofuscinosis, Neuronal, 2
57%
Facial ectodermal dysplasia
55%
Heterozygote
53%
Dolichols
50%
Intellectual Disability
50%
Familial paroxysmal dystonia
45%
Genetic Association Studies
43%
Ice Cover
42%
Genes
42%
Neurodevelopmental Disorders
40%
Parents
40%
Lysosomal Storage Diseases
37%
Mannose
37%
Genetic Databases
36%
Natural History
34%
Myoclonus
34%
Frameshift Mutation
33%
Muscle Hypotonia
33%
Muscular Dystrophies
32%
Counseling
31%
Zinc Fingers
31%
DNA
28%
Autistic Disorder
27%
Single Nucleotide Polymorphism
27%
Genetic Testing
26%
Hypoglycemia
26%
Genotype
26%
Growth Hormone
26%
tripeptidyl-peptidase 1
25%
Hydrocortisone
24%
Parkinson Disease
23%
Phenotype
22%
Newborn Infant
21%
Medicalization
20%
Referral and Consultation
20%
Enzymes
20%
Founder Effect
19%
Intraventricular Infusions
19%
Glycosylation
18%
Language Development Disorders
18%