Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesGenetic Basis of Brain MalformationsNext-Generation Sequencing in Intellectual DisabilityMutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysisMechanisms and consequences of somatic mosaicism in humansGenetic malformations of the cerebral cortex and epilepsySomatic mutation, genomic variation, and neurological diseaseNeuronal migration, cerebral cortical development, and cerebral cortical anomalies.The genetics of lissencephaly.Neuronal migration disorders, genetics, and epileptogenesis.Serping1/C1 Inhibitor Affects Cortical Development in a Cell Autonomous and Non-cell Autonomous Manner.Epilepsy and genetic malformations of the cerebral cortex.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyGenetic malformations of the human frontal lobe.Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brainLis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.A roadmap for precision medicine in the epilepsies.New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.Somatic activation of AKT3 causes hemispheric developmental brain malformations.Genetics. Our fallen genomes.Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.The Subventricular Zone: A Key Player in Human Neocortical Development.One brain, many genomes.Neuronal precursor-specific activity of a human doublecortin regulatory sequence.Mosaic DCX deletion causes subcortical band heterotopia in malesThe Genetics of Brain MalformationsMosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of InfancyComprehensive genotype-phenotype correlation in lissencephaly
P2860
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P2860
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
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2000 nî lūn-bûn
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2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Somatic and germline mosaic mu ...... iated with variable phenotypes
@ast
Somatic and germline mosaic mu ...... iated with variable phenotypes
@en
Somatic and germline mosaic mu ...... iated with variable phenotypes
@nl
type
label
Somatic and germline mosaic mu ...... iated with variable phenotypes
@ast
Somatic and germline mosaic mu ...... iated with variable phenotypes
@en
Somatic and germline mosaic mu ...... iated with variable phenotypes
@nl
prefLabel
Somatic and germline mosaic mu ...... iated with variable phenotypes
@ast
Somatic and germline mosaic mu ...... iated with variable phenotypes
@en
Somatic and germline mosaic mu ...... iated with variable phenotypes
@nl
P2093
P2860
P356
P1476
Somatic and germline mosaic mu ...... iated with variable phenotypes
@en
P2093
J G Gleeson
R I Kuzniecky
S Minnerath
P2860
P304
P356
10.1086/303043
P407
P577
2000-07-27T00:00:00Z