Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
about
Genomic diagnosis for children with intellectual disability and/or developmental delayThe role of genetic testing in epilepsy diagnosis and management.Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasiaSomatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.Commentary: GATOR Complex-Associated Epilepsies.
P2860
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@en
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@nl
type
label
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@en
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@nl
prefLabel
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@en
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@nl
P2093
P2860
P50
P1433
P1476
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
@en
P2093
E Martina Bebin
Elise Marsan
Eric Leguern
Georg Dorfmüller
Gregory M Cooper
Guido Rubboli
Kevin M Bowling
Line H G Larsen
Mathilde Chipaux
Pierre de la Grange
P2860
P356
10.1212/NXG.0000000000000118
P577
2016-10-31T00:00:00Z