Biochemistry, Genetics and Molecular Biology
Allele
24%
Array Comparative Genomic Hybridization
36%
Autosomal Dominant Inheritance
16%
Autosomal Recessive Disorder
25%
Autosomal Recessive Inheritance
100%
Body Height
10%
Brain Development
8%
BRCA1
8%
Candidate Gene
13%
Consanguinity
9%
DNA Mismatch Repair
9%
Dysplasia
13%
Exome
21%
Exome Sequencing
57%
Exon
26%
Fibroblast
9%
Gene Linkage
18%
Gene Mutation
13%
Genetic Counseling
18%
Genetic Disorder
11%
Genetic Heterogeneity
10%
Genetic Screening
18%
Genetics
66%
Genotype Phenotype Correlation
20%
Genotyping
33%
Germ Cell
17%
Germline
17%
Germline Mutation
8%
Glycosylation
11%
Haplotype
21%
Homozygosity
30%
Infancy
9%
Intellectual Disability
66%
Loss of Function Mutation
9%
Magnetism
8%
Microarrays
29%
Missense
14%
Missense Mutation
30%
Mosaicism
12%
Mouse
16%
Pedigree
9%
Penetrance
27%
Prenatal Screening
13%
Prevalence
27%
Proband
23%
Progeny
8%
RNA
9%
RNA Splicing
9%
Screening
10%
Transcription Factors
9%
Keyphrases
Ataxia Telangiectasia
17%
Autosomal Dominant
11%
Autosomal Recessive
70%
Biallelic
26%
Bilateral Striatal Necrosis
9%
Chromosomal Microarray
45%
Clinical Data
11%
Clinical Features
22%
Clinically Significant
12%
Congenital Heart Defects
9%
Copy number Variation
30%
Cutis Laxa
16%
Developmental Delay
20%
Diagnostic Performance
10%
Disease Variants
12%
Duplication
10%
Dysmorphic Features
11%
Early Onset
18%
Epilepsy
10%
Exome
13%
Exome Sequencing
29%
Fetus
23%
Founder Variant
11%
Genetic Counseling
15%
Genetic Heterogeneity
9%
Genotype
9%
Genotype-phenotype Correlation
25%
Germ Cells
12%
Hearing Impairment
18%
Intellectual Disability
57%
Israel
31%
Israeli
25%
Israeli Arabs
21%
Jewish Population
17%
Low-risk Pregnancy
10%
Macrocephaly
10%
Microcephaly
36%
Microdeletion
15%
Missense mutation
21%
New Syndrome
14%
Non-syndromic Mental Retardation
12%
Noninvasive Prenatal Screening
11%
Noninvasive Prenatal Testing
12%
Novel mutation
18%
Pathogenic Variants
32%
Penetrance
11%
Phenotypic Spectrum
10%
Proband
19%
Seizure
24%
Whole Exome Sequencing
10%
Medicine and Dentistry
Array Comparative Genomic Hybridization
26%
Autosomal Dominant Inheritance
9%
Autosomal Recessive Inheritance
34%
Brain Disease
11%
BRCA1
7%
Breast Cancer
6%
Cancer Susceptibility
5%
Childbirth
11%
Clinical Feature
9%
Clinician
5%
Cohort Analysis
6%
Congenital Malformation
14%
Corpus Callosum
7%
Cutis Laxa
6%
Developmental Delay
12%
Diagnosis
8%
Disease
32%
DNA Mismatch Repair
8%
Dysmorphic Feature
8%
Dysplasia
9%
Electroencephalogram
6%
Epileptic Absence
10%
Epileptic Seizure
21%
Exome Sequencing
11%
Exon
14%
Family History
6%
Gene Mutation
6%
Genetic Counseling
8%
Genetic Disorder
5%
Genotype
7%
Genotype Phenotype Correlation
5%
Hearing Impairment
6%
Helix
6%
Hereditary Elliptocytosis
6%
High Risk Pregnancy
6%
Hydrops fetalis
5%
Hypotrichosis
12%
Ichthyosis
6%
Microcephaly
15%
Microgyria
10%
Missense Mutation
7%
Neoplasm
9%
Nuchal Translucency Measurement
9%
Ovarian Cancer
6%
Penetrance
6%
Prenatal Screening
13%
Tonic-Clonic Seizure
5%
