Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Genetics
69%
Intellectual Disability
67%
Exome Sequencing
57%
Array Comparative Genomic Hybridization
39%
Genotyping
36%
Homozygosity
33%
Genomics
33%
Penetrance
31%
Missense Mutation
30%
Prevalence
27%
Exon
26%
Autosomal Recessive Disorder
24%
Allele
23%
Proband
22%
Magnetic Resonance Imaging
21%
Genetic Screening
21%
Haplotype
21%
Exome
21%
Genotype Phenotype Correlation
20%
Genetic Counseling
18%
Prenatal Screening
17%
Germline
17%
Germ Cell
17%
Gene Linkage
16%
Autosomal Dominant Inheritance
16%
Missense
15%
Dysplasia
13%
Candidate Gene
13%
Gene Mutation
13%
Mosaicism
12%
Glycosylation
11%
Genetic Disorder
11%
Genetic Heterogeneity
10%
Fibroblast
10%
Body Height
10%
Transcription Factors
9%
DNA Mismatch Repair
9%
RNA Splicing
9%
Consanguinity
9%
RNA
9%
Copy-Number Variation
9%
Infancy
9%
Loss of Function Mutation
8%
Pedigree
8%
Whole Genome Sequencing
8%
Offspring
8%
BRCA1
8%
Heterozygote
8%
Genetic Carrier
8%
Keyphrases
Autosomal Recessive
70%
Intellectual Disability
57%
Chromosomal Microarray
48%
Microcephaly
36%
Exome Sequencing
35%
Israel
34%
Pathogenic Variants
31%
Copy number Variation
30%
Biallelic
26%
Genotype-phenotype Correlation
25%
Israeli
25%
Seizure
24%
Fetus
23%
Clinical Features
21%
Israeli Arabs
21%
Missense mutation
21%
Developmental Delay
21%
Proband
19%
Novel mutation
18%
Hearing Impairment
18%
Early Onset
17%
Ataxia Telangiectasia
17%
Jewish Population
17%
Clinically Significant
16%
Cutis Laxa
16%
Noninvasive Prenatal Testing
16%
Microdeletion
15%
Genetic Counseling
15%
New Syndrome
14%
Exome
13%
Non-syndromic Mental Retardation
12%
Noninvasive Prenatal Screening
12%
Germ Cells
12%
Disease Variants
11%
Clinical Data
11%
Penetrance
11%
Autosomal Dominant
11%
Diagnostic Performance
11%
Dysmorphic Features
11%
Founder Variant
11%
Genetic Testing
11%
Duplication
10%
Whole Exome Sequencing
10%
Macrocephaly
10%
Low-risk Pregnancy
10%
Epilepsy
10%
Phenotypic Spectrum
9%
Genotype
9%
Bilateral Striatal Necrosis
9%
Congenital Heart Defects
9%
Medicine and Dentistry
Autosomal Recessive Inheritance
34%
Diseases
29%
Array Comparative Genomic Hybridization
26%
Epileptic Seizure
20%
Intellectual and Developmental Disabilities
16%
Microcephaly
15%
Exon
14%
Prenatal Screening
14%
Congenital Malformation
14%
Developmental Delay
12%
Hypotrichosis
12%
Brain Disease
11%
Exome Sequencing
11%
Germ Cell
10%
Microgyria
10%
Neoplasm
9%
Dysplasia
9%
Autosomal Dominant Inheritance
9%
Clinical Feature
9%
Nuchal Translucency Measurement
9%
Penetrance
8%
Genetic Counseling
8%
DNA Mismatch Repair
8%
Dysmorphic Feature
8%
Missense Mutation
7%
Corpus Callosum
7%
BRCA1
7%
Maternal Age
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%
Genetic Disorder
5%
Tonic-Clonic Seizure
5%
Fetus Echography
5%
Hydrops fetalis
5%
Genotype Phenotype Correlation
5%
Cancer Susceptibility
5%
Clinician
5%
