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「"Rouleau GA "[Author]」の検索結果

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Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.

Analysis of common and rare variants in late-onset Parkinson disease.

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository.

Investigation of the Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Genetic and epidemiological characterization of restless legs syndrome in Québec.

Genetic, structural and functional evidence link TMEM175 to synucleinopathies.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.

and Restless Legs Syndrome: A Comprehensive Review.

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.

Genetic architecture and adaptations of Nunavik Inuit.

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