DNA Mutational Analysis
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A Genetic Screen for Dominant Modifiers of acyclin EHypomorphic Mutation Identifies Novel Regulators of S-Phase Entry in Drosophila Academic Article
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A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting Academic Article
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A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients Academic Article
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A Simple, Rapid, and Sensitive Method for the Detection of theJAK2V617F Mutation Academic Article
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A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel Academic Article
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A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes Academic Article
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A multisite blinded study for the detection of BRAF mutations in formalin-fixed, paraffin-embedded malignant melanoma Academic Article
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A mutant BRAF V600E-specific immunohistochemical assay: correlation with molecular mutation status and clinical outcome in colorectal cancer Academic Article
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A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro Academic Article
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AP-1 and ERK1 but not p38 nor JNK is required for CRPV early protein 2-dependent MMP-9 promoter activation in rabbit epithelial cells Academic Article
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Antibody-Based Approach to High-Volume Genotyping for MIC-1 Polymorphism Academic Article
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Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD) Academic Article
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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients Academic Article
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Bicarbonate-Mediated Stimulation of RegA, the Global Virulence Regulator from Citrobacter rodentium Academic Article
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Characterization of a novel tumorigenic esophageal adenocarcinoma cell line: OANC1 Academic Article
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Clustered somatic mutations are frequent in transcription factor binding motifs within proximal promoter regions in melanoma and other cutaneous malignancies Academic Article
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Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer Academic Article
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Consequences of Two Different Amino-Acid Substitutions at the Same Codon in KRT14 Indicate Definitive Roles of Structural Distortion in Epidermolysis Bullosa Simplex Pathogenesis Academic Article
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DNA Breathing Enables Closed-Tube Mutant Allele Enrichment for Circulating Tumor DNA Analysis Editorial Article
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De novo point mutations in patients diagnosed with ataxic cerebral palsy Academic Article
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Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil-DNA glycosylase Academic Article
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Enhanced annealing of mismatched oligonucleotides using a novel melting curve assay allows efficient in vitro discrimination and restriction of a single nucleotide polymorphism Academic Article
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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females Academic Article
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Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond Academic Article
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FOXP3 is not mutated in human melanoma Academic Article
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Flagellin A is essential for the virulence of Vibrio anguillarum. Academic Article
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Gastrointestinal dysfunction in patients and mice expressing the autism‐associated R451C mutation in neuroligin‐3 Academic Article
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High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies Academic Article
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High resolution melting for mutation scanning of TP53exons 5–8 Academic Article
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Impact of KRAS and BRAF gene mutation status on outcomes from the phase III AGITG MAX trial of capecitabine alone or in combination with bevacizumab and mitomycin in advanced colorectal cancer Conference Paper
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Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome Academic Article
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Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer Academic Article
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Inhibin: a candidate gene for premature ovarian failure Academic Article
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Integrated mutation, copy number and expression profiling in resectable non-small cell lung cancer Academic Article
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Intravenous administration of Reolysin®, a live replication competent RNA virus is safe in patients with advanced solid tumors Academic Article
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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies Academic Article
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Limited copy number - high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies Academic Article
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Mapping of actionable mutations to histological subtype domains in lung adenocarcinoma: implications for precision medicine Academic Article
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Methylation of the BRCA1 gene in sporadic breast cancer Academic Article
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Molecular Genomic Profiling of Melanocytic Nevi Academic Article
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MutMap+: Genetic Mapping and Mutant Identification without Crossing in Rice Academic Article
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Mutation Detection Using Mass Spectrometric Separation of Tiny Oligonucleotide Fragments Academic Article
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Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure Academic Article
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Mutational analysis of betaglycan/TGF-βRIII in premature ovarian failure Academic Article
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Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations Academic Article
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Neuropsychological Diversity in Apert Syndrome Academic Article
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Novel prion protein insert mutation associated with prolonged neurodegenerative illness Academic Article
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PTEN gene expression and mutations in the PIK3CA gene as predictors of clinical benefit to anti-epidermal growth factor receptor antibody therapy in patients with KRAS wild-type metastatic colorectal cancer Academic Article
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Pan-cancer analysis of whole genomes Academic Article
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Plant cell wall polysaccharide biosynthesis: real progress in the identification of participating genes Academic Article
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Polyclonal Resistance in Gastrointestinal Stromal Tumor Treated with Sequential Kinase Inhibitors Academic Article
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Pseudohypoaldosteronism type 1: the index case revisited Academic Article
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Quantitative threefold allele-specific PCR (QuanTAS-PCR) for highly sensitive JAK2 V617F mutant allele detection Academic Article
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Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species Academic Article
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Rapid detection of FLT3 exon 20 tyrosine kinase domain mutations in patients with acute myeloid leukemia by high-resolution melting analysis Academic Article
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Rapid detection of carriers with BRCA1 and BRCA2mutations using high resolution melting analysis Academic Article
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Role of p53 in the progression of gastric cancer Academic Article
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Sensitive quantification of somatic mutations using molecular inversion probes Academic Article
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Single-Step Method for the Determination of the Amount of the Common Deletion in Mitochondrial DNA Academic Article
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Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas Academic Article
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Specificity and mutational analysis of the metal-dependent 3-deoxy-d-manno-octulosonate 8-phosphate synthase from Acidithiobacillus ferrooxidans Academic Article
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Structural Insight into BH3 Domain Binding of Vaccinia Virus Antiapoptotic F1L Academic Article
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TRAIL causes deletions at the HPRT and TK1 loci of clonogenically competent cells Academic Article
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The clinical relevance of pathologic subtypes in metastatic lung adenocarcinoma Academic Article
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The cysteine synthase complex from plants Academic Article
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Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes Academic Article
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Two Essential Light Chains Regulate the MyoA Lever Arm To Promote Toxoplasma Gliding Motility Academic Article
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g you The direct determination of haplotypes from extended regions of genomic DNA Academic Article