Connection

Search Results to Tomi Pastinen

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

Search Results

Pastinen, Tomi

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

Item Type	Name
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.
Academic Article	Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Academic Article	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Academic Article	Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Academic Article	Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Academic Article	Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Academic Article	DNA mismatch and damage patterns revealed by single-molecule sequencing.
Academic Article	Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Search Criteria

Mutation