Medicine & Life Sciences
Neonatal Screening
100%
Neurodevelopmental Disorders
49%
Phenotype
44%
Undiagnosed Diseases
43%
Intellectual Disability
36%
Tandem Mass Spectrometry
29%
Mitochondrial Diseases
26%
Muscle Hypotonia
23%
acylcarnitine
22%
Genes
22%
Exome
20%
Globoid Cell Leukodystrophy
20%
Epilepsy
19%
Fibroblasts
19%
Nervous System Diseases
19%
Genome
18%
succinylacetone
18%
Friedreich Ataxia
17%
Urine
17%
Glycogen Storage Disease Type II
16%
Proteins
15%
Amino Acids
15%
formiminotetrahydrofolate cyclodeaminase
15%
Tyrosinemias
13%
Alleles
13%
Child
13%
Electron Transport
13%
Rare Diseases
13%
Mucopolysaccharidosis I
13%
Diptera
13%
Haploinsufficiency
13%
Psychosine
12%
Adrenoleukodystrophy
12%
Biomarkers
12%
Cerebellar Hypoplasia
12%
Microcephaly
12%
Congenital Disorders of Glycosylation
12%
Genomics
12%
Mitochondrial DNA
12%
Peroxisomal Disorders
11%
Primary Hyperoxaluria
11%
frataxin
11%
Fabry Disease
11%
Exons
11%
Homocysteine
10%
Seizures
10%
2-methylcitric acid
10%
Medical Genetics
10%
Coloboma
10%
Inborn Errors Metabolism
10%