Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
about
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeSynaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.Autism, epilepsy, and synaptopathies: a not rare association.CDKL5 variants: Improving our understanding of a rare neurologic disorder.Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
P2860
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P2860
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@ast
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@en
type
label
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@ast
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@en
prefLabel
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@ast
Neurodevelopmental and neurobe ...... males with CDKL5 duplications.
@en
P2093
P2860
P356
P1476
Neurodevelopmental and neurobe ...... emales with CDKL5 duplications
@en
P2093
Ankita Patel
Carlos A Bacino
Daniel Kinney
Hans-Georg Bock
Janice L Smith
Patricia Hixson
Paweł Stankiewicz
Przemyslaw Szafranski
Reuben Matalon
P2860
P2888
P304
P356
10.1038/EJHG.2014.217
P577
2014-10-15T00:00:00Z