Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
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Advancing epilepsy genetics in the genomic eraDefining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Retinoic Acid-Related Orphan Receptors (RORs): Regulatory Functions in Immunity, Development, Circadian Rhythm, and Metabolism.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Analysis of rare copy number variation in absence epilepsies.Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.Towards a Molecular Syndromology of the Epilepsies.Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.RNA activation of haploinsufficient Foxg1 gene in murine neocortex.Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Finding the Missing Pieces: The Microdeletion Burden in GGE.δ-Protocadherins: Organizers of neural circuit assembly.Recent advances in epilepsy.Neurogenesis: Regulation by Alternative Splicing and Related Posttranscriptional Processes.Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Copy number variants in absence epilepsy: Further complications of the picture.Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.Transcriptomic correlates of neuron electrophysiological diversity.Enhancing Neuronogenesis and Counteracting Neuropathogenic Gene Haploinsufficiencies by RNA Gene Activation.Global characterization of copy number variants in epilepsy patients from whole genome sequencing.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Rare gene deletions in genetic generalized and Rolandic epilepsies
P2860
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P2860
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
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2015 nî lūn-bûn
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2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Burden analysis of rare microd ...... genetic generalised epilepsies
@ast
Burden analysis of rare microd ...... genetic generalised epilepsies
@en
Burden analysis of rare microd ...... genetic generalised epilepsies
@nl
type
label
Burden analysis of rare microd ...... genetic generalised epilepsies
@ast
Burden analysis of rare microd ...... genetic generalised epilepsies
@en
Burden analysis of rare microd ...... genetic generalised epilepsies
@nl
prefLabel
Burden analysis of rare microd ...... genetic generalised epilepsies
@ast
Burden analysis of rare microd ...... genetic generalised epilepsies
@en
Burden analysis of rare microd ...... genetic generalised epilepsies
@nl
P2093
P2860
P50
P3181
P1433
P1476
Burden analysis of rare microd ...... genetic generalised epilepsies
@en
P2093
Andre Franke
Anja C M Sonsma
Bernd A Neubauer
Bettina Schmitz
Bobby P Koeleman
Christian E Elger
Christoph J Schankin
Dennis Lal
Eva M Reinthaler
Herbert Schulz
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1005226
P407
P50
P577
2015-05-01T00:00:00Z