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Search Results to Tomi Pastinen

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Pastinen, Tomi

Item TypeName
Concept Mutation
Concept Germ-Line Mutation
Concept Mutation, Missense
Concept INDEL Mutation
Academic Article A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.
Academic Article Dissecting a population genome for targeted screening of disease mutations.
Academic Article Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Academic Article Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Academic Article Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.
Academic Article Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Academic Article TCF12 is mutated in anaplastic oligodendroglioma.
Academic Article Exome and regulatory element sequencing of neuromyelitis optica patients.
Academic Article Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Academic Article Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Academic Article Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Academic Article APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Academic Article Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
Academic Article H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.

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