Keyphrases
Ashkenazi Jews
23%
Ataxia
33%
Autosomal Recessive
58%
Cell Function
28%
Cerebellar Atrophy
23%
Cerebellar Hypoplasia
24%
Chromosomal Microarray
20%
Clinical Features
27%
Clinical Presentation
29%
Colony Forming Units
21%
Congenital Microcephaly
20%
Developmental Delay
32%
Developmental Outcomes
23%
Diffuse Reflection
20%
Early Onset
31%
Encephalopathy
24%
Endothelial Progenitor Cells
67%
Epilepsy
48%
Epileptic Encephalopathy
31%
Fetus
95%
Gold Nanorods
33%
Head Circumference
35%
Human Endothelial Progenitor Cells
37%
Infantile Epileptic Encephalopathy
31%
Infantile Onset
34%
Intellectual Disability
72%
Israel
23%
Israeli
41%
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
36%
Whole Exome Sequencing
29%
Biochemistry, Genetics and Molecular Biology
Allele
13%
Amino Acids
11%
Array Comparative Genomic Hybridization
15%
Autosomal Dominant Inheritance
19%
Autosomal Recessive Inheritance
53%
Candidate Gene
12%
CD133
13%
CD34
13%
Cell Function
25%
CEP290
11%
Copy-Number Variation
10%
Dysplasia
26%
Electron Transport Chain
19%
Endothelial Progenitor Cell
66%
Exome Sequencing
69%
Exon
18%
Fibroblast
16%
Gene Frequency
11%
Genetic Counseling
12%
Genetic Screening
15%
Genetics
100%
Genomics
11%
Genotype Phenotype Correlation
14%
Genotyping
24%
Germline Mutation
11%
Haploinsufficiency
10%
Infancy
21%
Intellectual Disability
59%
Kexin
10%
Kinase Insert Domain Receptor
11%
Leigh's Disease
23%
Magnetic Resonance Imaging
61%
Microdeletion Syndrome
12%
Missense
19%
Missense Mutation
52%
Mitochondrial Disorder
27%
Mitochondrial DNA
31%
Mitochondrial Myopathy
10%
Mosaicism
16%
Platelet
24%
Platelet Reactivity
13%
Point Mutation
10%
Prasugrel
18%
Prenatal Growth
11%
Prevalence
17%
Proband
21%
ST Elevation
16%
Transfer RNA
13%
Trisomy
11%
Wild Type
15%
Medicine and Dentistry
Alexander Disease
16%
Ataxia
28%
Autosomal Recessive Inheritance
28%
Brain Disease
29%
Brain Malformation
13%
Brainstem
18%
Cell Function
13%
Cerebellum
14%
Cerebellum Atrophy
18%
Clinical Feature
14%
Congenital Malformation
27%
Corpus Callosum
24%
Corpus Callosum Agenesis
14%
Cytomegalovirus Infection
15%
Developmental Delay
33%
Diabetes Mellitus
15%
Disease
45%
Diseases
33%
Disorders of Mitochondrial Functions
27%
Dystonia
14%
Endothelial Progenitor Cell
54%
Epileptic Seizure
36%
Exome Sequencing
24%
Gold Nanorod
14%
Hydrocephalus
13%
Hypoplasia
12%
Hypotonia
13%
Infantile Spasm
14%
Intellectual and Developmental Disabilities
29%
Leigh's Disease
15%
Leukoencephalopathy
19%
Liver Failure
14%
Magnetic Resonance Imaging
64%
Microcephaly
46%
Microgyria
16%
Missense Mutation
13%
Mitochondrial DNA
21%
Muscle Biopsy
17%
Myopathy
18%
Optic Nerve Atrophy
28%
Partial Seizure
12%
Platelet
18%
Prenatal Diagnosis
35%
Pseudocyst
18%
Respiratory Chain
14%
Spastic Paraplegia
13%
Status Epilepticus
14%
Stereotypic Movement Disorder
13%
Ventricle of Heart
21%
Ventriculomegaly
25%
