about
Ensembl 2011Ensembl 2012Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyAssessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseasesThe use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencingMAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.Variation in tau isoform expression in different brain regions and disease statesClinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutationPeriodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysisMutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Jana Vandrovcova
@ast
Jana Vandrovcova
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Jana Vandrovcova
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Jana Vandrovcova
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Jana Vandrovcova
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type
label
Jana Vandrovcova
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Jana Vandrovcova
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Jana Vandrovcova
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Jana Vandrovcova
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Jana Vandrovcova
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prefLabel
Jana Vandrovcova
@ast
Jana Vandrovcova
@en
Jana Vandrovcova
@es
Jana Vandrovcova
@nl
Jana Vandrovcova
@sl