Biochemistry, Genetics and Molecular Biology
Genetics
100%
BRCA1
54%
Germ Cell
46%
BRCA2
45%
Germline
45%
Intellectual Disability
44%
Genetic Screening
36%
Genotyping
36%
Missense
35%
Prevalence
33%
Exon
27%
Allele
24%
Mosaicism
23%
Exome Sequencing
22%
Proband
20%
Fibroblast
19%
Genotype Phenotype Correlation
19%
Autosomal Recessive Inheritance
18%
Genetic Counseling
17%
Enzyme
17%
Autosomal Dominant Inheritance
17%
Cohort Study
17%
Whole Genome Sequencing
17%
Missense Mutation
15%
Next Generation Sequencing
14%
Penetrance
13%
Gene Mutation
12%
Candidate Gene
12%
Methylation
12%
Array Comparative Genomic Hybridization
11%
Point Mutation
11%
ATP7A
11%
Mitochondrial DNA
11%
Menkes Disease
11%
Molecular Genetics
11%
Wild Type
11%
Genome-Wide Association Study
10%
Cytogenetics
10%
Single-Nucleotide Polymorphism
10%
Amino Acids
10%
Body Height
10%
DNA Methylation
10%
Haploinsufficiency
9%
Newborn Screening
9%
Transfer RNA
9%
Retinitis pigmentosa
9%
Genetic Divergence
9%
RNA
9%
Copy-Number Variation
9%
Myeloid
8%
Dysplasia
8%
Genetic Disorder
8%
Nonsense Mutation
8%
Germline Mutation
8%
Induced Pluripotent Stem Cell
8%
Rett Syndrome
8%
Mitochondrial Disease
7%
Mouse
7%
Genetic Carrier
7%
Heterozygote
7%
Electron Transport Chain
7%
Screening
7%
Comorbidity
7%
Fluorescence in Situ Hybridization
7%
Skeletal Muscle
7%
Oxidoreductase
7%
Metabolic Pathway
7%
DNA Mismatch Repair
7%
Single Nucleotide Polymorphism
7%
Epigenetics
6%
Genome Sequencing
6%
Haplotype
6%
Trisomy
6%
Enzyme Activity
6%
Messenger RNA
6%
MSH2
6%
Zebra Fish
6%
Medical Genetics
6%
Cross Sectional Study
6%
Autosomal Recessive Disorder
6%
Aneuploidy
6%
Sanger Sequencing
6%
Population
6%
Mannosidosis
5%
Mutational Load
5%
Homologous Recombination
5%
Chromosomal Rearrangement
5%
Estrogen Receptor
5%
Computer Model
5%
RNA Splicing
5%
Microdeletion Syndrome
5%
Mitochondrial Myopathy
5%
MLH1
5%
Preimplantation
5%
Phosphotransferase
5%
Synapsin I
5%
Multiplex Ligation-Dependent Probe Amplification
5%
Overall Survival
5%
Microarrays
5%
Homozygosity
5%
Keyphrases
Denmark
58%
Pathogenic Variants
43%
Intellectual Disability
40%
Breast Cancer Susceptibility Gene 1 (BRCA1)
34%
Germ Cells
28%
BRCA2
28%
BRCA2 mutation
26%
Breast Cancer Risk
23%
BRCA mutation Carriers
23%
Phenotypic Spectrum
22%
Autosomal Recessive
21%
Neurodevelopmental Disorders
20%
Genotype
20%
BRCA1, BRCA2
19%
Clinical Features
19%
Missense Variants
19%
Genotype-phenotype Correlation
19%
Confidence Interval
18%
Breast Cancer
18%
Epilepsy
18%
Genetic Testing
17%
Ovarian Cancer Risk
17%
Developmental Delay
17%
Ovarian Cancer
17%
Phenylketonuria
16%
Genetic Counseling
15%
Cancer Risk
15%
Duplication
15%
Rett Syndrome
14%
Whole Genome Sequencing
13%
Menkes Disease
13%
Proband
13%
Hearing Impairment
13%
Microdeletion
13%
Biallelic
13%
Mitochondrial DNA
12%
High Risk
12%
Variants of Uncertain Significance
12%
Missense mutation
12%
Hazard Ratio
12%
Compound Heterozygous mutation
11%
Alpha-mannosidosis
11%
Autosomal Dominant
11%
Lynch Syndrome
11%
Seizure
11%
Early Onset
11%
Family Members
11%
Mutation Carriers
11%
Melanoma
11%
Fetus
11%
Genetic Analysis
10%
Clinical Spectrum
10%
Copy number Variation
10%
Genome-wide Association Study
10%
Retinitis pigmentosa
10%
Gene mutation
10%
Fibroblasts
10%
Mitochondrial Disease
10%
Clinical Phenotype
9%
Gene Variants
9%
Tumor
9%
Induced Pluripotent Stem Cells (iPSCs)
9%
Novel mutation
9%
Newborn Screening
9%
Gain-of-function mutation
9%
Age of Onset
9%
Etiology
9%
ATP7A
9%
Mosaicism
9%
Exon
9%
Gilles De La Tourette Syndrome
8%
Point mutation
8%
Next-generation Sequencing
8%
Imprinting Disorders
8%
Novel Variants
8%
Exome Sequencing
8%
National Cohort Study
8%
X-linked
8%
Hereditary Colorectal Cancer Syndromes
8%
Autism Spectrum Disorder
8%
Uveal Melanoma
8%
Cancer Predisposition Syndrome
8%
Genotype-phenotype
8%
Short Stature
8%
Splicing mutation
8%
Europe
8%
Haploinsufficiency
7%
Molecular Diagnostics
7%
Late-onset
7%
Mitochondrial DNA mutation
7%
Danish Population
7%
Family History
7%
Clinical Genetics
7%
Retinal Dystrophy
7%
Genetic Causes
7%
Nonsense mutation
7%
Missense
7%
BRCA mutation
7%
Acute Lymphoblastic Leukemia
7%
Limb-girdle muscular Dystrophy
7%
Medicine and Dentistry
Disease
64%
Breast Cancer
30%
BRCA1
28%
Genetic Screening
25%
Diagnosis
25%
Malignant Neoplasm
23%
BRCA2
22%
Symptom
22%
Cancer Risk
20%
Prevalence
20%
Neoplasm
19%
Ovarian Cancer
19%
Cohort Analysis
14%
Nodular Melanoma
12%
Genetic Counseling
11%
Magnetic Resonance Imaging
11%
Epileptic Seizure
10%
Childbirth
10%
Autosomal Recessive Inheritance
9%
Developmental Delay
9%
Hazard Ratio
9%
Acute Lymphoblastic Leukemia
9%
Newborn Screening
8%
Autosomal Dominant Inheritance
8%
Polyposis
8%
Hearing Impairment
8%
Uveal Melanoma
8%
Cancer Susceptibility
8%
Mitochondrial DNA
8%
Mannosidosis
8%
Pediatrics
8%
Genotype Phenotype Correlation
8%
Hereditary Nonpolyposis Colorectal Cancer
8%
Clinical Feature
7%
Genetic Analysis
7%
Phenylketonuria
7%
Myopathy
7%
Disease Course
7%
Gene Mutation
7%
Retinitis pigmentosa
7%
Rett Syndrome
6%
Whole Genome Sequencing
6%
Visual Acuity
6%
Exon
6%
Mosaicism
6%
First Trimester Pregnancy
6%
Autosomal Dominant Optic Atrophy
5%
Congenital Adrenal Hyperplasia
5%
Colorectal Cancer
5%
Brain Disease
5%
Eye Disease
5%
Genetic Disorder
5%
Peutz Jeghers Syndrome
5%
Penetrance
5%
Cross Sectional Study
5%
Next Generation Sequencing
5%
Mastectomy
5%
Family History
5%
Congenital Malformation
5%
Clinical Finding
5%
Retina Dystrophy
5%
Placebo
5%
Epileptic Absence
5%
Metachromatic Leukodystrophy
5%
Salpingooophorectomy
5%
Stereotypic Movement Disorder
5%
Optical Coherence Tomography
5%