Medicine & Life Sciences
Mutation
100%
Whole Exome Sequencing
93%
Serum Response Factor
71%
Muscular Diseases
69%
Genes
68%
Intellectual Disability
60%
Phenotype
56%
Muscle Hypotonia
47%
Distal Myopathies
43%
Neurodevelopmental Disorders
42%
Exome
40%
Microcephaly
38%
Epilepsy
36%
Muscles
31%
High-Throughput Nucleotide Sequencing
31%
Muscle Development
28%
Translational Medical Research
27%
Loss of Function Mutation
27%
Exons
27%
Stem Cells
26%
Seizures
25%
Missense Mutation
23%
Atrophy
23%
Pyrroline Carboxylate Reductases
22%
Haploinsufficiency
22%
Hearing Loss
22%
Nonsyndromic Deafness
21%
delta-1-pyrroline-5-carboxylate
21%
Spastic Ataxia
21%
Lysine-tRNA Ligase
21%
Failure to Thrive
21%
Heart
20%
Limb-girdle muscular dystrophy type 2A
20%
Optic Atrophy
20%
Valosin Containing Protein
20%
Wolf-Hirschhorn Syndrome
19%
CHARGE Syndrome
19%
Brachial Plexus Neuritis
19%
Sideroblastic Anemia
19%
Amyloidosis, Hereditary, Transthyretin-Related
18%
Small Fiber Neuropathy
18%
Genetic Association Studies
18%
Fathers
18%
Persistent Fetal Circulation Syndrome
18%
Mitochondrial Myopathies
17%
Biomineralization
17%
Small Nuclear Ribonucleoproteins
17%
X-Linked Genes
17%
Adrenoleukodystrophy
17%