Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. - Wikidata - awgldk - TriplyDB

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

http://www.wikidata.org/entity/Q35101573

about

A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan.Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.

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Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

http://www.wikidata.org/entity/Q35101573

description

2014 nî lūn-bûn

@nan

2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի փետրվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Clinical features and gene mut ...... a cohort of Chinese patients.

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Clinical features and gene mut ...... a cohort of Chinese patients.

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type

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Clinical features and gene mut ...... a cohort of Chinese patients.

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Clinical features and gene mut ...... a cohort of Chinese patients.

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Clinical features and gene mut ...... a cohort of Chinese patients.

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Clinical features and gene mut ...... a cohort of Chinese patients.

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1471-2350-15-24

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BMC Medical Genetics

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Clinical features and gene mut ...... a cohort of Chinese patients.

@en

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Guangna Cao

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Hong Pan

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Jiarui Li

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Jie Zhang

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Jingjing Zhang

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Liping Wei

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Qingping Zhang

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Xiaoying Zhang

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Xinhua Bao

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Xiru Wu

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P2860

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Rett syndrome: revised diagnostic criteria and nomenclature

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

The three stages of epilepsy in patients with CDKL5 mutations

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

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1471-2350-15-24

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24

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scholarly article

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10.1186/1471-2350-15-24

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15

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2014-02-25T00:00:00Z

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260375647

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