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「"Riesch E "[Author]」の検索結果

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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

DEPDC5 mutations in genetic focal epilepsies of childhood.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

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