Biochemistry, Genetics and Molecular Biology
Microarrays
100%
Missense
94%
Intellectual Disability
90%
Exome Sequencing
82%
Molecular Genetics
76%
Telomere Length
58%
Genetic Screening
53%
Genetics
47%
Infancy
46%
Epigenetics
38%
Telomere
38%
Prenatal Growth
30%
Cohort Study
30%
Motor Performance
30%
Genotype Phenotype Correlation
30%
GATA4
30%
CHD1
30%
PTPN11
30%
Kinesin
30%
Epigenomics
30%
Epigenetics
30%
Exon
30%
Loss of Function Mutation
30%
SOS1
30%
Dicalcium Phosphate
30%
Biogenesis
30%
Adenosine Deaminase
30%
Transcription Factors
30%
Nuclear Pore
30%
Chromosome 8p
30%
Gene Discovery
30%
Penetrance
30%
RNA
30%
Low Copy Repeats
30%
Fibroblast
30%
T Cell
30%
Single-Nucleotide Polymorphism
30%
Inheritance
30%
Mendelian Inheritance
30%
Homozygosity
30%
Telomerase
28%
Sanger Sequencing
23%
Autosomal Dominant Inheritance
19%
Haploinsufficiency
19%
Phospholipase C
15%
Coding Region
15%
Promoter Region
15%
Amino Acids
15%
Pleiotropy
15%
Mitogen-Activated Protein Kinase
15%
Keyphrases
Clinical Setting
35%
Pulmonary Fibrosis
35%
Genetic Testing
33%
Chromosomal Microarray
33%
KMT2B
30%
Diagnostic Utility
30%
Clinical Management
30%
Telomere Length
30%
Reduced Penetrance
30%
Kinesin Superfamily
30%
Retrospective Analysis
30%
DADA2
30%
Infantile Epileptic Encephalopathy
30%
PLCB1
30%
Myoclonus
30%
CSNK2A1
30%
Clinical Relationships
30%
Acute Febrile Encephalopathy
30%
Genomic Research
30%
Return of Results
30%
Infantile Onset
30%
Return of Research Results
30%
Informed Consent
30%
Mitochondrial Dysfunction
30%
Tetralogy of Fallot
30%
TAB2
30%
Polyvalvular Dysplasia
30%
Hospital-based
30%
Genetic Counselors
23%
RFX7
23%
RFX3
23%
Pseudouridylation
20%
Motivation to Participate
20%
Exome Sequencing
15%
Family Members
15%
IKBKG
15%
Telomere Measurement
13%
Genome Sequencing
12%
Whole Exome Sequencing
12%
Treatment Decisions
11%
Test Interpretation
10%
Potential Influence
10%
Developmental Arrest
10%
Missense mutation
10%
Hypotonia
10%
Dominant Negative Effect
10%
Structured Interview
10%
Testing Experiences
10%
Liftover
10%
Kinesin Motors
10%
Medicine and Dentistry
Disease
95%
Genetic Screening
35%
Epigenomics
30%
Genome Sequencing
30%
Telomere
30%
Kinesin
30%
Informed Consent
30%
Myoclonus
30%
Brain Disease
30%
T Cell
30%
Pulmonary Fibrosis
30%
Immune Deficiency
30%
Study Participant
30%
Cross Sectional Study
30%
Tetralogy of Fallot
30%
Congenital Heart Defect
30%
Epilepsy
25%
Programmed Cell Death
21%
Developmental Delay
14%
Hypotonia
12%
Partial Seizure
10%
Diagnosis
10%
CRISPR Associated Protein
10%
Intractable Epilepsy
10%
Epileptic Seizure
9%
Telomerase
9%
Missense Mutation
7%
Spastic Paraplegia
7%
Carboxy Terminal Sequence
7%
Optic Nerve
7%
Exome Sequencing
7%
Apnea
7%
Vesicular Rash
7%
Valerian
7%
Plummer-Vinson Syndrome
7%
Epilepsy Syndromes
5%
Developmental Regression
5%
Infantile Spasm
5%
Phospholipase C
5%
Exon
5%
Sanger Sequencing
5%
Infancy
5%
Pleiotropy
5%
Intron
5%
Tonic-Clonic Seizure
5%
Promoter Region
5%
