Thomas Jefferson University

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McGrath, John
One or more keywords matched the following items that are connected to McGrath, John
Item TypeName
Concept Polymorphism, Single Nucleotide
Academic Article Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Academic Article Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
Academic Article Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Academic Article Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
Academic Article Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.
Academic Article Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.
Academic Article Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
Academic Article Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Academic Article Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Academic Article Detection of SNP-SNP interactions in trios of parents with schizophrenic children.
Academic Article Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.
Academic Article Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.
Search Criteria
  • Polymorphism Single Nucleotide