„Mutations“
Suchergebnisse
10.000+ Treffer
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Sensitive methods for screening of the MEK1 gene mutations in patients with central nervous system metastases of non-small cell lung cancer
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Allele-specific CAPS markers based on point mutations in resistance alleles at the pvr1 locus encoding eIF4E in Capsicum
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Casitas B-lineage lymphoma linker helix mutations found in myeloproliferative neoplasms affect conformation
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Novel and Existing Mutations in the Tyrosine Kinase Domain of the Epidermal Growth Factor Receptor are Predictors of Optimal Resectability in Malignant Peritoneal Mesothelioma
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Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
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BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population
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Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer
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Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance
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Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing
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Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity
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Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes
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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene
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Clinical significance of fibroblast growth factor receptor 2 expression in patients with residual rectal cancer after preoperative chemoradiotherapy: relationship with KRAS or BRAF mutations and MSI status
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The prognostic implication of SRSF2 mutations in Chinese patients with acute myeloid leukemia
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High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients
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Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies
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A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes
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New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
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Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
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Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I