Keyphrases
3-methylglutaconic Aciduria
46%
Audiology
31%
Biobank
23%
Branchio-oto-renal Syndrome
46%
C2orf71
23%
CHARGE Syndrome
46%
CHD7
46%
CHD7 Gene
37%
Chromodomain Helicase DNA-binding Proteins
28%
Consensus Process
23%
Core Competence
23%
Deafness
52%
DFNA22
23%
Digenic Inheritance
23%
European Consensus
23%
EYA1
46%
Genetic Testing
43%
Genetics Education
23%
Genomic Medicine
23%
Hearing Impairment
90%
Heart Defects
39%
High-resolution Melting
23%
Locus-specific Database
28%
Medicines Development
23%
Mitochondrial Morphology
23%
Monogenic Diabetes
23%
Multiorgan Disease
23%
Next-generation Sequencing
33%
Non-syndromic Hearing Loss
46%
Nonsense mutation
28%
Novel Locus
23%
Optic Atrophy
25%
Pendred Syndrome
23%
PHARC
23%
Points to Consider
23%
Polymorphism
35%
Prioritization Criteria
23%
Rapidly Progressive
29%
RP1L1
23%
Sensorineural Hearing Impairment
28%
SLC26A4
46%
Sudden Sensorineural Hearing Loss (SSNHL)
33%
Syndromic Retinal Dystrophy
23%
USH2
39%
USH2A
58%
Usher Syndrome
70%
WFS1
35%
WFS1 Gene
54%
Wolfram Syndrome
62%
Wolframin
25%
Biochemistry, Genetics and Molecular Biology
Array Comparative Genomic Hybridization
31%
Autosomal Dominant Inheritance
38%
Autosomal Recessive Inheritance
37%
Barrow (Swine)
23%
Candidate Gene
23%
CHD7
46%
Chromodomain
26%
Chromosome 13
23%
CLCN1
23%
Disease Registry
23%
DNA-binding Protein
26%
Down Syndrome
23%
Exome
23%
Exome Sequencing
23%
Exon
35%
EYA1
46%
Frameshift Mutation
26%
Genetic Screening
31%
Genetics
64%
Genotype Phenotype Correlation
33%
Genotype Phenotype Correlation
23%
Genotyping
30%
GJB2
31%
Helicase
26%
Homoplasmy
23%
Human Ether A Go Go Related Gene
23%
Infancy
23%
Ion Channel
23%
KCNE2
23%
Linkage Analysis
35%
Long QT Syndrome
23%
Melting Point
23%
Missense
23%
Morphant
23%
Myotonia congenita
23%
Neocentromere
23%
Next Generation Sequencing
45%
Nonsense Mutation
44%
Proband
39%
Retinitis pigmentosa
54%
Satellite DNA
23%
Synapsin I
23%
TBX2
23%
Thiamine
23%
Triglyceride
23%
Tyrosine Kinase 2
23%
WFS1
46%
Wild Type
39%
Wolfram Syndrome
36%
Zebra fish
35%
Medicine and Dentistry
3-Methylglutaconic Aciduria
46%
Aneuploidy
23%
Audiology
23%
Auditory Neuropathy
23%
Auditory System
23%
Autosomal Dominant Inheritance
26%
Bardet-Biedl Syndrome
23%
Branchio-Oto-Renal Syndrome
23%
Choanal Atresia
15%
Clinical Genetics
35%
Coloboma
15%
Connexin 26
23%
Decision Making
23%
Deterioration
15%
Diabetes
23%
Dilated Cardiomyopathy
15%
Disease
18%
Diseases
36%
DNA Binding Protein
26%
Dystonia
23%
Ear Malformation
15%
Frameshift Mutation
26%
Gene Insertion Sequence
15%
Genetic Screening
35%
Growth, Development and Aging
15%
Health Care
25%
Health Care Cost
25%
Hearing Impairment
100%
Helicase
26%
Human Genetics
15%
Magnetic Resonance Imaging
15%
Nephropathy
23%
Next Generation Sequencing
16%
Onset Age
26%
Ophthalmology
23%
Optic Nerve Atrophy
16%
Patient Care
20%
Prenatal Screening
23%
Pure Tone Audiometry
15%
Rare Disease
23%
Sensorineural Hearing Loss
20%
Sensory Stimulation
23%
Syndrome CHARGE
46%
Thiamine
23%
Tungsten
46%
Water-Electrolyte Imbalance
16%
Wolfram Syndrome
28%
