„mutation“
Suchergebnisse
1.000+ Treffer
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A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler
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Cell of origin epigenetic priming determines susceptibility to Tet2 mutation
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Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status
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Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88L265P and CXCR4 mutations and underlying haemopathy
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Genetic and Methylation Analysis of CTNNB1 in Benign and Malignant Melanocytic Lesions
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Longitudinal analyses of CLL in mice identify leukemia-related clonal changes including a Myc gain predicting poor outcome in patients
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Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non- Invasive Home-Based Collection of Upper Airway Lining Fluid
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Cutaneous epithelioid haemangiomas show somatic mutations in the mitogen-activated protein kinase pathway
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Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features
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Integrative approaches to high-throughput data in lymphoid leukemias (on transcriptomes, the whole-genome mutational landscape, flow cytometry and gene copy-number alterations)
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Gaining insight into crizotinib resistance mechanisms caused by L2026M and G2032R mutations in ROS1 via molecular dynamics simulations and free-energy calculations
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Detection of p53 Gene Mutation (Single-Base Mismatch) Using a Fluorescent Silver Nanoclusters
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Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations
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A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
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Mutational and biochemical findings in adults with persistent hypophosphatasemia
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Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease
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Emerging role of mutations in epigenetic regulators including MLL2 derived from The Cancer Genome Atlas for cervical cancer
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An association study between CHEK2 gene mutations and susceptibility to breast cancer
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Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms
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Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation