Medicine & Life Sciences
Neurodevelopmental Disorders
100%
Intellectual Disability
95%
Undiagnosed Diseases
70%
Phenotype
64%
Muscle Hypotonia
50%
Exome
44%
Genes
36%
Epilepsy
34%
Rare Diseases
33%
Megalencephaly
31%
Mutation
31%
Brain Diseases
28%
Whole Exome Sequencing
27%
Nervous System Diseases
26%
Seizures
25%
Human Genetics
25%
Proteins
25%
Autism Spectrum Disorder
24%
Muscular Dystrophies
23%
Cerebellar Hypoplasia
23%
Phenylbutyrates
22%
Names
22%
Medicine
20%
Brain
20%
Fibroblasts
20%
Chromosome 15q13.3 Microdeletion Syndrome
19%
Neonatal Screening
19%
Parents
19%
Diptera
19%
Child
19%
Coloboma
18%
Genome
18%
Dyskinesias
17%
Genetic Testing
15%
Translational Medical Research
15%
White Matter
15%
Genomic Segmental Duplications
15%
Atrophy
15%
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
14%
Ether
14%
TARP syndrome
14%
sphingolipid desaturase
14%
Autistic Disorder
14%
Inborn Urea Cycle Disorder
14%
Language Development Disorders
14%
Contracture
14%
Aniridia cerebellar ataxia mental deficiency
13%
Molecular Biology
13%
15q24 Microdeletion
13%
Alleles
13%