Keyphrases
Denmark
80%
Pathogenic Variants
43%
Genetic Screening
43%
COL3A1
40%
Adoptees
40%
Major Events
40%
Ehlers-Danlos Syndrome
40%
Syndromic Neurodevelopmental Disorder
40%
Elective Surgical Procedures
40%
Renal Cancer
40%
Zinc Finger Protein
40%
Renal Cell Carcinoma
40%
Biallelic Variants
40%
Family History
30%
Missense Variants
27%
Invasive Procedures
26%
Missense
23%
Movement Disorders
20%
Large Cohort
20%
BRCA1-associated Protein 1 (BAP1)
14%
Medical Procedures
13%
Medical Records
13%
Specialty Clinic
13%
Observation Time
13%
Elective Surgery
13%
Fatal Complication
13%
Hereditary Kidney Cancer
10%
CDKN2B
10%
Von Hippel-Lindau
10%
Variant Classification
10%
Hereditary Disease
10%
Disease Susceptibility
10%
Surveillance Program
10%
Overall Health
10%
Speech Movement
10%
Feature Movement
10%
Degree of Delay
10%
Ethnic Groups
10%
Early Seizures
10%
Seizure Disorder
10%
Moderate to Severe
10%
Speech Impairment
10%
Gross Motor Development
10%
Mild Phenotype
10%
Biallelic
10%
Phenotype Definition
10%
Intellectual Disability
10%
Genotype Information
10%
Pathogenicity
10%
Hypotonia
10%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Genetic Screening
50%
Microphthalmia-Associated Transcription Factor
40%
Medical Record
40%
BAP1
40%
CDKN2B
30%
Intellectual Disability
26%
Protein Modeling
13%
Genotyping
13%
Genetic Disorder
13%
Motor Development
13%
Genetic Predisposition
10%
Germ Cell
10%
Germline
10%
SDHB
10%
Prevalence
10%
Start Codon
10%
