Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
about
Rett Syndrome: Reaching for Clinical TrialsWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyClinical review of genetic epileptic encephalopathiesThere is variability in the attainment of developmental milestones in the CDKL5 disorder.Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Autism genetics - an overview.The neuropathological consequences of CDKL5 mutation.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Functional abilities in children and adults with the CDKL5 disorder.
P2860
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P2860
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
description
2010 nî lūn-bûn
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2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Cyclin-dependent kinase-like 5 ...... yndrome and related disorders.
@en
Cyclin-dependent kinase-like 5
@nl
type
label
Cyclin-dependent kinase-like 5 ...... yndrome and related disorders.
@en
Cyclin-dependent kinase-like 5
@nl
prefLabel
Cyclin-dependent kinase-like 5 ...... yndrome and related disorders.
@en
Cyclin-dependent kinase-like 5
@nl
P2093
P2860
P50
P356
P1476
Cyclin-dependent kinase-like 5 ...... yndrome and related disorders.
@en
P2093
Alexandra Fischer
Artur Darmanian
Bruce Bennetts
Carolyn J Ellaway
Desiree Cloosterman
Ingrid E Scheffer
Juliette Nectoux
Rose White
Simone C Yendle
P2860
P304
P356
10.1375/TWIN.13.2.168
P407
P577
2010-04-01T00:00:00Z