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One or more keywords matched the following items that are connected to Fortina, Paolo
Item TypeName
Concept Mutation
Concept INDEL Mutation
Academic Article Variants in genes involved in functional pathways associated with hypertension in African Americans.
Academic Article Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations.
Academic Article Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Academic Article Genotyping on a thermal gradient DNA chip.
Academic Article Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection.
Academic Article Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.
Academic Article Mutation detection using ligase chain reaction in passivated silicon-glass microchips and microchip capillary electrophoresis.
Academic Article Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.
Academic Article Genotyping beta-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction.
Academic Article Identification of a KRAS mutation in a patient with non-small cell lung cancer treated with chemoradiotherapy and panitumumab.
Academic Article Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Academic Article Gene Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Academic Article Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Academic Article Detection of Activating Estrogen Receptor Gene (ESR1) Mutations in Single Circulating Tumor Cells.
Academic Article Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer.
Academic Article Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Academic Article Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines.
Academic Article Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Academic Article Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
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