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「"Topp SD "[Author]」の検索結果

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ASY1 acts as a dosage-dependent antagonist of telomere-led recombination and mediates crossover interference in .

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Interacting genomic landscapes of REC8-cohesin, chromatin and meiotic recombination in Arabidopsis thaliana.

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Massive crossover elevation via combination ofandduringmeiosis.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.

Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation.

The role of positive selection in determining the molecular cause of species differences in disease.

New methods for researching accessory proteins.

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