Keyphrases
Fetus
95%
Intellectual Disability
67%
Prenatal Diagnosis
61%
Microcephaly
60%
Autosomal Recessive
57%
Related Disorders
50%
Epilepsy
48%
Mitochondrial Disease
39%
Israeli
36%
Head Circumference
35%
Phenotypic Spectrum
34%
Infantile Onset
33%
Seizure
33%
Ataxia
32%
Developmental Delay
32%
Epileptic Encephalopathy
31%
Infantile Epileptic Encephalopathy
31%
Novel mutation
29%
Mitochondrial DNA
29%
Whole Exome Sequencing
29%
Clinical Presentation
29%
Leigh Syndrome
28%
Missense mutation
28%
Magnetic Resonance Imaging
28%
Clinical Features
27%
Early Onset
26%
Optic Atrophy
26%
Joubert Syndrome
25%
Encephalopathy
24%
Macrocephaly
24%
Cerebellar Hypoplasia
24%
Cerebellar Atrophy
23%
Developmental Outcomes
23%
Mitochondrial Myopathy
23%
Ashkenazi Jews
23%
Muscle Biopsy
23%
Jewish Population
22%
Periventricular Pseudocysts
20%
Congenital Microcephaly
20%
Polymicrogyria
20%
Chromosomal Microarray
20%
Gene mutation
20%
Cytomegalovirus Infection
19%
Epileptic Seizure
18%
Israel
18%
Dysmorphic Features
18%
Myopathy
18%
White Matter Abnormalities
18%
De-novo mutations
17%
Hypotonia
17%
Medicine and Dentistry
Disease
70%
Magnetic Resonance Imaging
64%
Microcephaly
45%
Prenatal Diagnosis
35%
Epileptic Seizure
34%
Brain Disease
29%
Autosomal Recessive Inheritance
29%
Developmental Delay
28%
Optic Nerve Atrophy
28%
Ataxia
28%
Congenital Malformation
27%
Disorders of Mitochondrial Functions
26%
Ventriculomegaly
25%
Corpus Callosum
24%
Exome Sequencing
23%
Childbirth
23%
Mitochondrial DNA
21%
Ventricle of Heart
21%
Leukoencephalopathy
19%
Brainstem
18%
Cerebellum Atrophy
18%
Myopathy
18%
Pseudocyst
18%
Muscle Biopsy
17%
Alexander Disease
16%
Microgyria
16%
Cytomegalovirus Infection
15%
Symptom
15%
Leigh's Disease
15%
Clinical Feature
14%
Cerebellum
14%
Corpus Callosum Agenesis
14%
Dystonia
14%
Infantile Spasm
14%
Liver Failure
14%
Status Epilepticus
14%
Respiratory Chain
14%
Hypotonia
13%
Spastic Paraplegia
13%
Brain Malformation
13%
Missense Mutation
13%
Hydrocephalus
13%
Partial Seizure
12%
Pregnancy
12%
Hypoplasia
12%
Agenesis
12%
Cortical Dysplasia
12%
Lactic Acidosis
12%
Diagnosis
12%
Differential Diagnosis
11%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome Sequencing
71%
Intellectual Disability
54%
Autosomal Recessive Inheritance
53%
Missense Mutation
52%
Magnetism
33%
Dysplasia
26%
Genotyping
23%
Mitochondrial DNA
23%
Leigh's Disease
23%
Mitochondrial Disorder
22%
Electron Transport Chain
21%
Proband
21%
Infancy
20%
Microarrays
20%
Autosomal Dominant Inheritance
19%
Exon
18%
Prevalence
17%
Missense
17%
Fibroblast
15%
Genetic Screening
15%
Array Comparative Genomic Hybridization
14%
Mosaicism
14%
Genotype Phenotype Correlation
14%
Wild Type
13%
Allele
13%
Candidate Gene
12%
Microdeletion Syndrome
12%
Amino Acids
12%
Transfer RNA
12%
Genetic Counseling
12%
CEP290
11%
Point Mutation
11%
Prenatal Growth
11%
Gene Frequency
11%
Trisomy
11%
Computer Model
11%
Copy-Number Variation
10%
Enzyme
10%
Mitochondrial Myopathy
10%
Mitochondrion
10%
Signal Transduction
10%
Heterozygote
9%
Genetic Carrier
9%
TMEM67
9%
HD Domain
9%
Marker Chromosome
9%
Chromosome Marker
9%
Bone Development
9%
Deceleration
9%
