Keyphrases
Intellectual Disability
85%
Prenatal Diagnosis
51%
Israel
49%
Autosomal Recessive
48%
Fetus
47%
Mucolipidosis Type IV
47%
Lysosomal Storage Disease
44%
Short Stature
41%
Neurodevelopmental Disorders
41%
Mucolipidosis
39%
Exome Sequencing
35%
Developmental Delay
35%
Whole Exome Sequencing
34%
Microcephaly
33%
Hearing Impairment
31%
Spondyloepiphyseal Dysplasia
31%
Congenital Heart Defects
30%
Jewish
28%
Ashkenazi Jews
26%
Clinical Features
25%
Proband
25%
Pathogenic Variants
25%
Facial Features
24%
Global Developmental Delay
24%
Fabry Disease
23%
Jewish Population
22%
Missense Variants
22%
Genetic Disease
21%
Genetic Testing
21%
Kabuki Syndrome
21%
Compound Heterozygous mutation
21%
Gene mutation
21%
Deafness
20%
Consanguineous Family
20%
Arab Muslim
18%
Novel mutation
18%
Jewish Patients
18%
Kindred
18%
Psychomotor Retardation
17%
Monogenic
17%
Haploinsufficiency
17%
Skeletal Dysplasia
17%
Phenotypic Spectrum
17%
Autosomal Dominant
17%
Enzyme Replacement Therapy
17%
Phosphotransferase
17%
Disease Progression
17%
Ashkenazi
17%
Radiological Findings
16%
N-acetylglucosamine-1-phosphotransferase
16%
Biochemistry, Genetics and Molecular Biology
Intellectual Disability
86%
Exome Sequencing
78%
Genetics
64%
Missense
53%
Autosomal Recessive Inheritance
42%
Mucolipidosis
42%
Enzyme
40%
Dysplasia
40%
Autosomal Dominant Inheritance
37%
Body Height
35%
Phosphotransferase
33%
Kinase
33%
Mucolipidosis Type IV
31%
Pseudo-Hurler Polydystrophy
30%
Genetic Disorder
26%
Haplotype
23%
Haploinsufficiency
22%
Exon
21%
Fibroblast
21%
Gene Mutation
20%
Proband
19%
Genetic Screening
19%
Candidate Gene
19%
Genetic Counseling
19%
Exome
16%
Cytogenetics
15%
Roberts Syndrome
15%
Autophagy
15%
Facial Expression
15%
Ubiquitination
15%
Glutamic Acid
15%
N-Acetyltransferase
15%
Lysosomal Storage Disease
15%
N-Acetylglucosamine
15%
Genomics
15%
Mosaicism
14%
Genetic Mechanism
11%
Epigenetics
11%
Allele
11%
Burst Suppression
11%
Consanguinity
10%
Infancy
10%
Penetrance
10%
Mannose 6-Phosphate
10%
Clinical Study
10%
Medical Genetics
9%
Protein Complexes
9%
Dideoxynucleotide Sequencing
9%
Prevalence
9%
Codon
9%
Medicine and Dentistry
Diseases
100%
Prenatal Diagnosis
46%
Exome Sequencing
42%
Short Stature
33%
Mucolipidosis Type IV
31%
Autosomal Recessive Inheritance
30%
Congenital Malformation
29%
Hearing Impairment
27%
Pediatrics
27%
Disease
27%
Dysplasia
24%
Gene Mutation
24%
Developmental Delay
23%
Microcephaly
22%
Facies
21%
Congenital Heart Defect
19%
Genetic Disorder
19%
Clinical Feature
18%
Intellectual and Developmental Disabilities
18%
Lysosomal Storage Disease
16%
Rare Disease
16%
Nephrotic Syndrome
16%
Epileptic Seizure
16%
Bone Dysplasia
16%
Brain Disease
16%
Ectrodactyly
15%
Limb
15%
Milroy's Disease
15%
Kabuki Syndrome
15%
Enzyme Replacement Therapy
15%
Mucopolysaccharidosis
15%
Glutamic Acid
15%
Clinical Study
15%
Single Nucleotide Polymorphism
15%
Hypoplasia
14%
Genetic Screening
14%
Thrombocytopenia
13%
Clinical Genetics
13%
Heart Disease
12%
Aplasia
11%
Hypogonadism
11%
Ventriculomegaly
11%
Brachydactyly
11%
Radiological Finding
11%
Congenital Nephrotic Syndrome
11%
Neurodevelopmental Disorder
11%
Pelvis
11%
Burst Suppression
11%
Genetic Counseling
11%
Lymphedema
10%
