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「"Lemke JR"[Author]」の検索結果

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Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Parental mosaicism in epilepsies due to alleged de novo variants.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Diagnostic implications of genetic copy number variation in epilepsy plus.

From next generation sequencing to targeted treatment of non-acquired epilepsies.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardations.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

NBEA: developmental disease gene with early generalized epilepsy phenotypes.

Correction: The landscape of epilepsy-related GATOR1 variants.

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Correction to: The landscape of epilepsy-related GATOR1 variants.

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