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「"Gécz J "[Author]」の検索結果

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Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

X-linked Intellectual Disability: Phenotypic Expression in Carrier Females.

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Heterozygous loss of function of / leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.

'Big issues' in neurodevelopment for children and adults with congenital heart disease.

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia.

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

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