Keyphrases
Ashkenazi Jews
23%
Ataxia
32%
Autosomal Recessive
57%
Cell Function
27%
Cerebellar Atrophy
23%
Cerebellar Hypoplasia
24%
Chromosomal Microarray
20%
Clinical Features
27%
Clinical Presentation
29%
Colony Forming Units
20%
Congenital Microcephaly
20%
Developmental Delay
32%
Developmental Outcomes
23%
Diffuse Reflection
20%
Early Onset
26%
Encephalopathy
24%
Endothelial Progenitor Cells
67%
Epilepsy
48%
Epileptic Encephalopathy
31%
Fetus
95%
Gene mutation
20%
Gold Nanorods
23%
Head Circumference
35%
Human Endothelial Progenitor Cells
32%
Infantile Epileptic Encephalopathy
31%
Infantile Onset
33%
Intellectual Disability
67%
Israeli
36%
Jewish Population
22%
Joubert Syndrome
25%
Leigh Syndrome
28%
Macrocephaly
24%
Magnetic Resonance Imaging
28%
Microcephaly
60%
Missense mutation
28%
Mitochondrial Disease
39%
Mitochondrial DNA
29%
Mitochondrial Myopathy
23%
Muscle Biopsy
23%
Novel mutation
29%
Optic Atrophy
26%
Periventricular Pseudocysts
20%
Phenotypic Spectrum
34%
Platelet Reactivity
21%
Polymicrogyria
20%
Prenatal Diagnosis
61%
Related Disorders
50%
Reticulated Platelets
23%
Seizure
33%
Whole Exome Sequencing
29%
Biochemistry, Genetics and Molecular Biology
Allele
13%
Amino Acids
12%
Array Comparative Genomic Hybridization
14%
Autosomal Dominant Inheritance
19%
Autosomal Recessive Inheritance
53%
Candidate Gene
12%
CD133
11%
CD34
11%
Cell Function
24%
CEP290
11%
Colony Forming Unit S
15%
Computer Model
11%
Dysplasia
26%
Electron Transport Chain
21%
Endothelial Progenitor Cell
61%
Enzyme
11%
Exome Sequencing
71%
Exon
18%
Fibroblast
15%
Gene Frequency
11%
Genetic Counseling
12%
Genetic Screening
15%
Genetics
100%
Genotype Phenotype Correlation
14%
Genotyping
23%
Germline Mutation
11%
Infancy
20%
Intellectual Disability
54%
Leigh's Disease
23%
Magnetism
33%
Microarrays
20%
Microdeletion Syndrome
12%
Missense
17%
Missense Mutation
52%
Mitochondrial Disorder
22%
Mitochondrial DNA
23%
Mosaicism
14%
Mouse
11%
Platelet
24%
Platelet Reactivity
13%
Point Mutation
11%
Prasugrel
18%
Prenatal Growth
11%
Prevalence
17%
Proband
21%
Signal Transduction
10%
ST Elevation
16%
Transfer RNA
12%
Trisomy
11%
Wild Type
13%
Medicine and Dentistry
Alexander Disease
16%
Ataxia
28%
Autosomal Recessive Inheritance
29%
Brain Disease
29%
Brain Malformation
13%
Brainstem
18%
Cell Function
13%
Cerebellum
14%
Cerebellum Atrophy
18%
Childbirth
23%
Clinical Feature
14%
Colony Forming Unit S
13%
Congenital Malformation
27%
Corpus Callosum
24%
Corpus Callosum Agenesis
14%
Cytomegalovirus Infection
15%
Developmental Delay
28%
Diabetes Mellitus
15%
Disease
71%
Disorders of Mitochondrial Functions
26%
Dystonia
14%
Endothelial Progenitor Cell
54%
Epileptic Seizure
34%
Exome Sequencing
23%
Hydrocephalus
13%
Hypoplasia
12%
Hypotonia
13%
Infantile Spasm
14%
Leigh's Disease
15%
Leukoencephalopathy
19%
Liver Failure
14%
Magnetic Resonance Imaging
64%
Microcephaly
45%
Microgyria
16%
Missense Mutation
13%
Mitochondrial DNA
21%
Muscle Biopsy
17%
Myopathy
18%
Optic Nerve Atrophy
28%
Partial Seizure
12%
Platelet
18%
Pregnancy
12%
Prenatal Diagnosis
35%
Pseudocyst
18%
Respiratory Chain
14%
Spastic Paraplegia
13%
Status Epilepticus
14%
Symptom
15%
Ventricle of Heart
21%
Ventriculomegaly
25%