Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Intellectual Disability
63%
Genetics
62%
Exome Sequencing
54%
Array Comparative Genomic Hybridization
36%
Genotyping
33%
Missense Mutation
30%
Microarrays
29%
Homozygosity
27%
Penetrance
27%
Exon
26%
Prevalence
26%
Autosomal Recessive Disorder
24%
Allele
22%
Haplotype
21%
Exome
21%
Genotype Phenotype Correlation
20%
Proband
19%
Gene Linkage
18%
Genetic Counseling
18%
Genetic Screening
18%
Germline
17%
Germ Cell
17%
Mouse
16%
Autosomal Dominant Inheritance
16%
Missense
14%
Prenatal Screening
13%
Dysplasia
13%
Candidate Gene
13%
Gene Mutation
13%
Mosaicism
12%
Glycosylation
11%
Genetic Disorder
11%
Genetic Heterogeneity
10%
Body Height
10%
Screening
10%
Transcription Factors
9%
Infancy
9%
Consanguinity
9%
Loss of Function Mutation
9%
Pedigree
9%
Fibroblast
9%
Progeny
8%
DNA Mismatch Repair
8%
BRCA1
8%
Magnetism
8%
Brain Development
8%
Germline Mutation
8%
Copy-Number Variation
8%
Microsatellite Marker
8%
Keyphrases
Autosomal Recessive
70%
Intellectual Disability
57%
Chromosomal Microarray
44%
Microcephaly
36%
Israel
31%
Pathogenic Variants
30%
Copy number Variation
30%
Exome Sequencing
26%
Biallelic
26%
Genotype-phenotype Correlation
25%
Israeli
24%
Seizure
24%
Fetus
23%
Clinical Features
22%
Israeli Arabs
21%
Missense mutation
21%
Developmental Delay
20%
Novel mutation
18%
Hearing Impairment
18%
Early Onset
18%
Ataxia Telangiectasia
17%
Jewish Population
16%
Proband
16%
Cutis Laxa
16%
Genetic Counseling
15%
New Syndrome
14%
Exome
13%
Noninvasive Prenatal Testing
12%
Non-syndromic Mental Retardation
12%
Clinically Significant
12%
Germ Cells
12%
Microdeletion
12%
Clinical Data
11%
Penetrance
11%
Autosomal Dominant
11%
Dysmorphic Features
11%
Noninvasive Prenatal Screening
11%
Diagnostic Performance
10%
Founder Variant
10%
Duplication
10%
Whole Exome Sequencing
10%
Macrocephaly
10%
Low-risk Pregnancy
10%
Epilepsy
10%
Phenotypic Spectrum
10%
Genotype
9%
Bilateral Striatal Necrosis
9%
Congenital Heart Defects
9%
Genetic Heterogeneity
9%
Bilateral Frontoparietal Polymicrogyria
9%
Medicine and Dentistry
Autosomal Recessive Inheritance
34%
Disease
32%
Array Comparative Genomic Hybridization
26%
Epileptic Seizure
21%
Microcephaly
15%
Exon
14%
Congenital Malformation
14%
Prenatal Screening
13%
Developmental Delay
12%
Hypotrichosis
12%
Childbirth
11%
Brain Disease
11%
Exome Sequencing
11%
Microgyria
10%
Epileptic Absence
10%
Neoplasm
9%
Dysplasia
9%
Clinical Feature
9%
Autosomal Dominant Inheritance
9%
Nuchal Translucency Measurement
9%
Genetic Counseling
8%
Dysmorphic Feature
8%
DNA Mismatch Repair
8%
Diagnosis
8%
Missense Mutation
7%
Corpus Callosum
7%
BRCA1
7%
Genotype
7%
Breast Cancer
6%
Family History
6%
Gene Mutation
6%
Ovarian Cancer
6%
Ichthyosis
6%
Hereditary Elliptocytosis
6%
Cohort Analysis
6%
High Risk Pregnancy
6%
Electroencephalogram
6%
Helix
6%
Cutis Laxa
6%
Hearing Impairment
6%
Penetrance
6%
Genetic Disorder
5%
Tonic-Clonic Seizure
5%
Hydrops fetalis
5%
Genotype Phenotype Correlation
5%
Cancer Susceptibility
5%
Clinician
5%