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「"Gécz J "[Author]」の検索結果

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Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.

EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene networks.

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

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.

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