Keyphrases
Intellectual Disability
63%
Whole Exome Sequencing
50%
Autosomal Recessive
47%
Israel
44%
Neurodevelopmental Disorders
39%
Novel mutation
37%
Phenotypic Spectrum
34%
Prenatal Diagnosis
34%
Proband
32%
Developmental Delay
31%
Newborn Screening
30%
Exome Sequencing
30%
Biallelic
30%
Molecular Diagnostics
26%
Fetus
25%
Biallelic Variants
25%
Ashkenazi Jews
24%
Epilepsy
24%
Pathogenic Variants
24%
CACNA1C
21%
Congenital Heart Defects
21%
Hypotonia
20%
Inborn Errors
20%
Kindred
20%
Etiology
19%
Dehydrogenase
18%
Natural History
18%
Loss Function
18%
Facial Features
17%
Multiplex
17%
Jewish
16%
Genetic Disease
16%
Urinary Tract
16%
Clinical Phenotype
16%
Neurological Manifestations
15%
Clinical Manifestations
15%
Monogenic
14%
Phenotypic Expansion
14%
Associated Disorders
14%
Genetic Renal Disease
14%
Mucolipidosis Type IV
14%
Cerebellar Ataxia
14%
Genetic Causes
14%
Nonsense mutation
14%
Kabuki Make-up Syndrome
14%
Protein-losing Enteropathy
14%
Related Disorders
14%
Dihydrolipoamide Deficiency
14%
Biallelic mutations
13%
Missense Variants
13%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Intellectual Disability
62%
Genetics
56%
Proband
41%
Autosomal Recessive Inheritance
41%
Dysplasia
31%
Newborn Screening
29%
Infancy
25%
Missense
21%
Genetic Disorder
19%
Fibroblast
19%
Dehydrogenase
18%
Oxidoreductase
18%
Exon
17%
Anabolism
15%
Autosomal Dominant Inheritance
15%
Array Comparative Genomic Hybridization
15%
Nonsense Mutation
14%
Bone Morphogenetic Protein
14%
Mucolipidosis Type IV
14%
Hemispheric Dominance
14%
Dihydrolipoamide Dehydrogenase
14%
Galactose
14%
Coenzyme A
14%
Promoter Region
14%
Autosomal Recessive Disorder
14%
Next Generation Sequencing
12%
Prevalence
12%
Enzyme
11%
Intron
10%
Regulatory Sequence
10%
Genetic Counseling
10%
Methyltransferase
9%
Solution and Solubility
9%
Phlebothrombosis
9%
Genetic Screening
9%
Isoform
9%
Candidate Gene
8%
Genotyping
8%
Gene Expression
8%
Homozygosity
8%
Lactose
8%
Amino Acids
8%
Stem Cell
8%
Dynamics
7%
Metabolic Pathway
7%
Maroteaux-Lamy Syndrome
7%
Arylsulfatase B
7%
Binding Protein
7%
Coding Region
7%
Medicine and Dentistry
Diseases
35%
Exome Sequencing
29%
Prenatal Diagnosis
25%
Pediatrics
25%
Molecular Diagnosis
22%
Genetic Disorder
17%
Hypotonia
17%
Congenital Anomalies of the Kidney and Urinary Tract
16%
Newborn Screening
14%
Kabuki Syndrome
14%
Nonsense Mutation
14%
Prematurity
14%
Patient Referral
14%
Gestational Age
14%
Disease
14%
Neurodevelopmental Disorder
14%
Diarrhea
13%
Intellectual and Developmental Disabilities
11%
Autosomal Recessive Inheritance
11%
Developmental Delay
11%
Sepsis
10%
Clinical Feature
10%
Array Comparative Genomic Hybridization
10%
Optic Nerve Atrophy
9%
Hydronephrosis
8%
Urinary Tract Finding
8%
Dysplasia
7%
Differential Diagnosis
7%
Renal Failure
7%
Congenital Malformation
7%
Enterobacter Cloacae
7%
Hereditary Neuropathy with Liability to Pressure Palsy
7%
Systematic Review
7%
Adrenal Hemorrhage
7%
Aciduria
7%
Lupus Erythematosus
7%
Urea Cycle Disorder
7%
Agents Acting on the Eye
7%
Birth Weight
7%
Orotic Acid
7%
Phenylketonuria
7%
Pervasive Developmental Disorder
7%
Guanosine Triphosphatase Activating Protein
7%
Long Chain Acyl Coenzyme A Dehydrogenase
7%
Ataxia
7%
Phenylalanine
7%
Premature Rupture of Membrane
7%
Fulminant
7%
Congenital Adrenal Hyperplasia
7%
Organoid
7%
