Keyphrases
Fetus
99%
Intellectual Disability
71%
Endothelial Progenitor Cells
67%
Prenatal Diagnosis
61%
Microcephaly
60%
Autosomal Recessive
58%
Related Disorders
49%
Epilepsy
48%
Israeli
41%
Mitochondrial Disease
39%
Human Endothelial Progenitor Cells
37%
Seizure
36%
Head Circumference
35%
Phenotypic Spectrum
34%
Infantile Onset
33%
Ataxia
33%
Gold Nanorods
32%
Developmental Delay
31%
Epileptic Encephalopathy
31%
Early Onset
31%
Infantile Epileptic Encephalopathy
31%
Novel mutation
29%
Mitochondrial DNA
29%
Whole Exome Sequencing
29%
Magnetic Resonance Imaging
29%
Clinical Presentation
29%
Cell Function
28%
Leigh Syndrome
28%
Missense mutation
28%
Clinical Features
26%
Optic Atrophy
26%
Joubert Syndrome
25%
Encephalopathy
24%
Macrocephaly
24%
Cerebellar Hypoplasia
24%
Cerebellar Atrophy
23%
Developmental Outcomes
23%
Mitochondrial Myopathy
23%
Reticulated Platelets
23%
Israel
23%
Ashkenazi Jews
23%
Muscle Biopsy
22%
Jewish Population
22%
Colony Forming Units
21%
Platelet Reactivity
21%
Periventricular Pseudocysts
20%
Congenital Microcephaly
20%
Polymicrogyria
20%
Diffuse Reflection
20%
Chromosomal Microarray
20%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome Sequencing
70%
Endothelial Progenitor Cell
65%
Intellectual Disability
63%
Magnetic Resonance Imaging
60%
Autosomal Recessive Inheritance
53%
Missense Mutation
52%
Mitochondrial DNA
31%
Mitochondrial Disorder
27%
Dysplasia
25%
Cell Function
25%
Platelet
24%
Genotyping
24%
Leigh's Disease
23%
Proband
21%
Infancy
20%
Electron Transport Chain
19%
Autosomal Dominant Inheritance
19%
Missense
18%
Prasugrel
18%
Exon
18%
Prevalence
17%
Fibroblast
16%
ST Elevation
16%
Mosaicism
16%
Wild Type
15%
Genetic Screening
15%
Array Comparative Genomic Hybridization
14%
Genotype Phenotype Correlation
14%
Platelet Reactivity
13%
Allele
13%
CD34
13%
CD133
13%
Transfer RNA
13%
Candidate Gene
12%
Microdeletion Syndrome
12%
Genetic Counseling
12%
Germline Mutation
11%
CEP290
11%
Genomics
11%
Prenatal Growth
11%
Kinase Insert Domain Receptor
11%
Amino Acids
11%
Gene Frequency
11%
Trisomy
10%
Point Mutation
10%
Copy-Number Variation
10%
Haploinsufficiency
10%
Mitochondrial Myopathy
10%
Kexin
10%
Medicine and Dentistry
Magnetic Resonance Imaging
65%
Endothelial Progenitor Cell
54%
Microcephaly
45%
Disease
44%
Epileptic Seizure
36%
Prenatal Diagnosis
34%
Developmental Delay
33%
Diseases
33%
Brain Disease
29%
Intellectual and Developmental Disabilities
28%
Autosomal Recessive Inheritance
28%
Ataxia
28%
Optic Nerve Atrophy
28%
Congenital Malformation
27%
Disorders of Mitochondrial Functions
26%
Ventriculomegaly
25%
Corpus Callosum
24%
Exome Sequencing
23%
Mitochondrial DNA
21%
Ventricle of Heart
21%
Leukoencephalopathy
19%
Platelet
18%
Brainstem
18%
Cerebellum Atrophy
18%
Myopathy
18%
Pseudocyst
18%
Muscle Biopsy
17%
Brain Malformation
16%
Alexander Disease
16%
Microgyria
15%
Cytomegalovirus Infection
15%
Diabetes Mellitus
15%
Leigh's Disease
15%
Clinical Feature
14%
Cerebellum
14%
Corpus Callosum Agenesis
14%
Dystonia
14%
Infantile Spasm
14%
Status Epilepticus
14%
Gold Nanorod
14%
Liver Failure
14%
Respiratory Chain
14%
Hypotonia
13%
Spastic Paraplegia
13%
Missense Mutation
13%
Hydrocephalus
13%
Stereotypic Movement Disorder
13%
Cell Function
13%
Partial Seizure
12%
Third Trimester Pregnancy
12%
