Medicine & Life Sciences
Mutation
100%
Genes
52%
Phenotype
47%
Denmark
44%
Intellectual Disability
30%
Genetic Testing
22%
Breast Neoplasms
22%
Neoplasms
18%
Ovarian Neoplasms
17%
Genetic Association Studies
16%
Child
15%
Mitochondrial DNA
15%
Rett Syndrome
14%
Muscles
14%
Tourette Syndrome
13%
Phenylketonurias
13%
Genotype
13%
Menkes Kinky Hair Syndrome
12%
Proteins
12%
Exons
12%
Eye
12%
Epilepsy
12%
Hereditary Nonpolyposis Colorectal Neoplasms
12%
Hearing Loss
12%
Melanoma
12%
Chromosomes
11%
Alleles
11%
Genetic Counseling
11%
Genome
11%
Population
10%
Missense Mutation
10%
alpha-Mannosidosis
10%
Neurodevelopmental Disorders
10%
Cohort Studies
10%
Fibroblasts
10%
Neonatal Screening
10%
Pediatrics
10%
Exome
9%
Therapeutics
9%
High-Throughput Nucleotide Sequencing
9%
Retinitis Pigmentosa
9%
Mitochondrial Diseases
9%
Nonsense Codon
9%
Molecular Biology
9%
Copper
8%
Mosaicism
8%
Retinal Dystrophies
8%
Uveal melanoma
8%
Guidelines
8%
Systemic carnitine deficiency
8%
Germ-Line Mutation
8%
Carnitine
8%
Seizures
8%
Whole Genome Sequencing
8%
Pregnancy
8%
Methylation
8%
Single Nucleotide Polymorphism
7%
Precursor Cell Lymphoblastic Leukemia-Lymphoma
7%
Inborn Genetic Diseases
7%
Databases
7%
Penetrance
7%
Brain Diseases
7%
Macular Degeneration
7%
Haploinsufficiency
7%
Brain
7%
Down Syndrome
7%
Enzymes
7%
Siblings
6%
Muscular Diseases
6%
Inborn Urea Cycle Disorder
6%
Mothers
6%
Autosomal Dominant Optic Atrophy
6%
Psychological Imprinting
6%
De Lange Syndrome
6%
Fetus
6%
Registries
6%
Mitochondrial Myopathies
6%
Incidence
6%
Colorectal Neoplasms
6%
Limb-Girdle Muscular Dystrophies
6%
Autistic Disorder
6%
Autism Spectrum Disorder
6%
Confidence Intervals
6%
Chromosome Aberrations
6%
Exercise
5%
Induced Pluripotent Stem Cells
5%
Bardet-Biedl Syndrome
5%
DNA Mismatch Repair
5%
Microcephaly
5%
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
5%
Karyotype
5%
Biopsy
5%
Point Mutation
5%
Whole Exome Sequencing
5%
Leigh Disease
5%
Muscle Hypotonia
5%
Electron Transport
5%
DNA
5%
First Pregnancy Trimester
5%
Myotonic Dystrophy
5%