Keyphrases
Developmental Disorders
100%
Helicase Domain
66%
Impaired Speech
66%
CHD3
66%
Overgrowth Syndrome
33%
Low-calorie Diet
33%
Methyltransferase
33%
De-novo mutations
33%
GABPA
33%
Renal Dysplasia
33%
Null Variants
33%
Camptodactyly-arthropathy-coxa Vara-pericarditis
33%
Proteoglycan 4 (PRG4)
33%
ELAC2
33%
Phosphoinositide Signaling
33%
Corneal Dystrophy
33%
X-linked
33%
Ubiquitin-fold Modifier 1
33%
Useful Patterns
33%
Phenotypic Data
33%
Junctional Adhesion Molecule
33%
UBA5
33%
Infantile Onset
33%
Phosphatidylinositol 4,5-bisphosphate (PIP2)
33%
Neonatal Presentation
33%
Wnt Signaling
33%
KMT2E
33%
Human Cognition
33%
Wnt Signaling Pathway
33%
Neurodevelopmental Syndrome
33%
Genetic Causes
33%
Ellis-van Creveld Syndrome
33%
Macrocephaly
33%
Subependymal
33%
Cell Degradation
33%
JAM3
33%
BCR-ABL Transcript
33%
Bent Bone Dysplasia
33%
Tight Junction Proteins
33%
Middle Eastern Population
33%
Probabilistic Genotype
33%
Ubiquitin-specific Protease
33%
Wnt5a
33%
Dipeptidyl peptidase-4 Inhibition
33%
Vascular Redox
33%
Etoricoxib
33%
Human Atherosclerosis
33%
Redox Dysregulation
33%
HHT2
33%
Secondary Associations
33%
PDLIM5
33%
CACNA1B
33%
Hypertrophic Osteoarthropathy
33%
AT-rich
33%
Gonadal Mosaicism
33%
Rich Interaction
33%
Cardio-obstetrics
33%
KIF7
33%
MiR-92a
33%
Epicardial Adipose
33%
Epicardial Adipose Tissue
33%
Endoglin
33%
Endoplasmic Reticulum Quality Control
33%
Silver-Russell Syndrome
33%
GyrA Gene
33%
Campylobacter Jejuni Infection
33%
Meticillin-resistant Staphylococcus Aureus
33%
CYP2D6 Genotype
33%
Hereditary Hemorrhagic Telangiectasia
33%
Molecular Potential
33%
Mendelian Conditions
33%
Heterogeneous Cohorts
33%
Aging Biomarkers
33%
EVC2 Gene
25%
CUL7
20%
BCR-ABL Fusion Gene
20%
Fusion Transcript
20%
Cytochrome P450 2D6 (CYP2D6)
19%
Inherited Variants
16%
Causal mutation
16%
Single Block
16%
Palestinian Family
16%
Cognition Deficits
16%
Segment Polarity Gene
16%
Human Homolog
16%
Iranian Families
16%
Splice Junction
16%
Exon Skipping
16%
Human Brain Development
16%
RNA Analysis
16%
Pathogenic Effects
16%
EVC Gene
16%
Coronary Artery Bypass Graft Surgery
16%
Genetic Family
16%
Population Unique
16%
Inherited Cardiac Conditions
16%
Cardiac Health
16%
OBSL1
16%
NADPH Oxidase Activity
14%
Ultrarapid Metabolizer
14%
Biochemistry, Genetics and Molecular Biology
Genetics
80%
Exon
80%
Missense
73%
Homozygosity
66%
Speech and Language
66%
CHD3
66%
Endoglin
66%
Proband
50%
Exome Sequencing
48%
Genotyping
41%
Mouse
40%
WNT5A
40%
Gene Mutation
33%
Wilms' Tumor
33%
Stop Codon
33%
Consanguinity
33%
Biodiversity
33%
Chromosome 1
33%
Inborn Error of Metabolism
33%
X Chromosomal Inheritance
33%
Gene Linkage
33%
Cell Junction
33%
Occludin
33%
Lymphoblast
33%
Blood Brain Barrier
33%
Zinc Ion
33%
Nonsense-Mediated Decay
33%
Fusion Transcript
33%
Wild Type
33%
MicroRNA
33%
Ubiquitin
33%
Prevalence
33%
Activin
33%
Parental Age
33%
Autosomal Recessive Disorder
33%
Mosaicism
33%
CYP2D6
33%
Proteoglycan
33%
Helicase
33%
Campylobacter Jejuni
33%
Ciprofloxacin
33%
Dysplasia
33%
Messenger RNA
33%
Exome
33%
Penetrance
33%
Sodium-Glucose Cotransporter 2 Inhibitors
33%
Prenatal Growth
30%
Autosomal Recessive Inheritance
27%
Retrospective Study
25%
Bayesian Learning
22%
DNA Sequence
22%
Nicotinamide Adenine Dinucleotide Phosphate
20%
Genetic Disorder
19%
Intellectual Disability
17%
Genetic Screening
16%
Protein Function
16%
Gene Function
16%
Candidate Gene
16%
Newborn Period
16%
Awareness
16%
Sanger Sequencing
16%
Population
16%
Single-Nucleotide Polymorphism
16%
Involuntary Movement
16%
Relatedness
16%
Progeny
16%
Body Height
16%
Allele
13%
Population Size
11%
Thrombopoietin
11%
Founder Effect
11%
Protein Conformation
11%
Fibroblast Growth Factor
11%
Clinical Classification
11%
Mitochondrial Disorder
11%
Haploinsufficiency
11%
Pribnow Box
11%
DNA Rearrangement
11%
BCR (Gene)
11%
Apelin
11%
Intron
11%
Splice Site Mutation
11%
Genetic Heterogeneity
11%
Point Mutation
11%
Protein Catabolism
9%
Eicosanoid Receptor
9%
Start Codon
8%
Exon Skipping
8%
Segment Polarity Gene
8%
Wnt Signaling Pathway
8%
Brain Development
8%
Chromosomal Rearrangement
8%
Missense Mutation
8%
Development
8%
Phenylketonuria
8%
Hedgehog Signaling Pathway
8%
Irritability
6%
DNA Polymerase
6%
APOBEC
6%
Mouse Mammary Tumor Virus
6%
Medicine and Dentistry
Macrocephaly
33%
Speech and Language
33%
Obstetrics
33%
Very Low Calorie Diet
33%
Methyltransferase
33%
Kidney Dysplasia
33%
Ciprofloxacin
33%
Deubiquitinase
33%
Quinolone Derivative
33%
Campylobacter Enteritis
33%
Dipeptidyl Peptidase IV
33%
Redox Signalling
33%
Canagliflozin
33%
Etoricoxib
33%
Osteoarthropathy
33%
Cardiovascular Disease
33%
Adipose Tissue
33%
Cardiomyopathy
33%
Silver-Russell Syndrome
33%
Coronary Artery Bypass Surgery
20%
microRNA
18%
Thrombopoietin
11%
Bone Mass
11%
Point Mutation
11%
Quinolone
11%
Gene Mapping
11%
Bloody Diarrhea
11%
Campylobacter Jejuni
11%
Adenosine Phosphate
9%
Family History
8%
Retrospective Study
8%
Delayed Diagnosis
8%
Care Coordination
8%
Awareness
8%
Secreted Frizzled Related Protein 5
8%
Population
8%
Zellweger Syndrome
8%
Maple Syrup Urine Disease
8%
Beta-Ketothiolase Deficiency
8%
Joint Swelling
8%
Risedronic Acid
8%
Tamoxifen
8%
Colchicine
8%
Intrauterine Growth Retardation
8%
Genetic Screening
8%
In Vitro
7%
Nicotinamide Adenine Dinucleotide Phosphate
7%
Heart Surgery
7%
Myocardium
7%
Metabolome
7%
Aortic Endothelial Cell
7%
Exome Sequencing
6%
Mouse Embryo
6%
Fibroblast Growth Factor
6%
Indel Mutation
6%
Protein Conformation
6%
Skin Fibroblast
6%
Internal Thoracic Artery
6%
Saphenous Vein
6%
Alpha Chain
5%
GA Binding Protein
5%
Chromosome 17
5%
Biodiversity
5%
Clinical Observation
5%
