INIS
patients
100%
genetics
73%
genes
63%
diseases
54%
testing
46%
phenotype
41%
proteins
37%
data
30%
risks
28%
women
27%
losses
27%
cancer
26%
dna
24%
screening
23%
mutations
22%
humans
22%
spectra
20%
breasts
19%
carriers
17%
nucleotides
16%
comparative evaluations
15%
pain
14%
pregnancy
13%
mitochondria
12%
yields
11%
stability
11%
netherlands
11%
malignancies
10%
reviews
9%
genotype
9%
ions
8%
detection
8%
ovaries
8%
levels
8%
variations
8%
metabolism
8%
congenital diseases
8%
defects
7%
tumors
7%
prediction
7%
skin
7%
methylation
7%
control
7%
fibers
7%
males
6%
decision making
6%
interactions
6%
symptoms
6%
correlations
6%
dermatitis
6%
fibroblasts
6%
obesity
6%
panels
6%
information
6%
children
5%
laboratories
5%
guidelines
5%
chromosomes
5%
sodium
5%
biological markers
5%
methyl transferases
5%
sugars
5%
fetuses
5%
embryos
5%
aneuploidy
5%
errors
5%
kidneys
5%
homeostasis
5%
tissues
5%
synthesis
5%
Keyphrases
Pathogenic Variants
25%
Neurodevelopmental Disorders
22%
Intellectual Disability
17%
Gain-of-function mutation
17%
Missense Variants
17%
Preimplantation Genetic Diagnosis
16%
Breast Cancer Risk
15%
Noninvasive Prenatal Testing
14%
Pregnant Women
14%
Copy number Variation
13%
Dilated Cardiomyopathy
11%
Netherlands
11%
Developmental Delay
9%
Gene Variants
8%
Syndromic Neurodevelopmental Disorder
8%
Ion Channel Genes
8%
Small Fiber Neuropathy
8%
Non-invasive Prenatal Test
8%
CHEK2
8%
Genotype
7%
Malignancy
7%
Genetic Testing
7%
Genetic Variants
7%
Obesity
7%
Dutch
7%
Genetic Diagnosis
6%
Whole Exome Sequencing
6%
Seizure
6%
Genome Sequencing
6%
Biallelic
6%
Single nucleotide Variant
6%
Reproductive Options
6%
Transient Receptor Potential Vanilloid 1 (TRPV1)
6%
Neuropathy
6%
Next-generation Sequencing
6%
Early Onset
6%
Haplarithmisis
6%
Painful Neuropathy
6%
Monoallelic
6%
Exome
6%
Alport Syndrome
5%
Maternal Malignancy
5%
Basal Cell Nevus Syndrome
5%
KBG Syndrome
5%
Disease-associated
5%
Nucleotide Sugars
5%
Molecular Characterization
5%
Gene Screening
5%
First-tier Test
5%
Galactosemia
5%
Clinical Grade
5%
Whole Genome Sequencing
5%
CUL3
5%
Inherited Cardiac Conditions
5%
BRCA2 mutation
5%
Ovarian Cancer Risk
5%
COL4A1
5%
Neuropathic Pain
5%
Atopic Dermatitis
5%
Variants of Uncertain Significance
5%
Phenotypic Spectrum
5%
Monogenic
5%
Ca2+
5%
Disease Genes
5%
Cell-free DNA (cfDNA)
5%
Biochemistry, Genetics and Molecular Biology
Genetics
30%
Missense
28%
Intellectual Disability
24%
Genetic Screening
23%
Exome Sequencing
21%
Genetic Divergence
16%
Preimplantation
14%
Genotyping
14%
Exome
12%
Mosaicism
11%
Genomics
8%
Next Generation Sequencing
8%
BRCA2
8%
CHEK2
8%
DNA Methylation
8%
BRCA1
8%
Cardiac Dysrhythmia
8%
Proband
7%
Metabolic Pathway
7%
Single-Nucleotide Polymorphism
7%
Germline
6%
Germ Cell
6%
Genome Sequencing
6%
Indel
6%
Prevalence
6%
Mitochondrial DNA
5%
Body Height
5%
COL4A4
5%
Ion Channel
5%
Polygenic Score
5%
Whole Genome Sequencing
5%
Aneuploidy
5%