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Keyphrases
Hearing Impairment
100%
Epilepsy
100%
Neurodevelopmental
100%
2-oxoglutarate Dehydrogenase
100%
Visual Impairment
100%
Biallelic Variants
100%
Ataxia
100%
Drosophilidae
22%
Lethality
22%
Krebs Cycle
22%
Mitochondrial Metabolism
22%
Synonymous Variant
22%
Complementary DNA (cDNA)
11%
Metabolism
11%
Transcriptome Analysis
11%
Pan-neuronal
11%
Fibroblasts
11%
Pathogenicity
11%
Rate-limiting Enzyme
11%
Orthologs
11%
Neurodevelopmental Disorders
11%
Cas9 Protein
11%
Mitochondrial Respiration
11%
Tissue-specific Knockout
11%
Neurological Phenotype
11%
Hypomorphic mutation
11%
Corpus Callosum Dysgenesis
11%
Single nucleotide Variant
11%
Human Neuronal Cells
11%
Rescue System
11%
Neurodevelopmental Phenotypes
11%
Missense Variants
11%
Microcephaly
11%
Exon 11
11%
Gain-of-function mutation
11%
Frameshift Variant
11%
Behavioral Defects
11%
Gait Ataxia
11%
Compound Heterozygous mutation
11%
Biochemistry, Genetics and Molecular Biology
Oxidoreductase
100%
Dehydrogenase
100%
Mitochondrial Respiration
33%
Allele
22%
Citric Acid Cycle
22%
Krebs Cycle
22%
Enzyme
11%
Metabolic Pathway
11%
Exon
11%
Wild Type
11%
Single-Nucleotide Polymorphism
11%
Orthology
11%
CRISPR/Cas9
11%
Missense
11%
Fibroblast
11%
Neuroscience
Oxoglutarate Dehydrogenase
100%
Ataxia
100%
Mitochondrial Respiration
33%
Citric Acid Cycle
22%
Metabolic Pathway
11%
Complementary DNA
11%
Exon
11%
Single-Nucleotide Polymorphism
11%
CRISPR
11%
Corpus Callosum
11%
Microcephaly
11%
Fibroblast
11%