„Mutations“
Suchergebnisse
10.000+ Treffer
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Mutations in MurE, the essential UDP-N-acetylmuramoylalanyl-d-glutamate 2,6-diaminopimelate ligase of Corynebacterium glutamicum: effect on l-lysine formation and analysis of systemic consequences
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Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling
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Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
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Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression
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PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression
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Retrospective study of RAS/PIK3CA/BRAF tumor mutations as predictors of response to first-line chemotherapy with bevacizumab in metastatic colorectal cancer patients
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Concordance between PIK3CA mutations in endoscopic biopsy and surgically resected specimens of esophageal squamous cell carcinoma
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Clinicopathological Associations of K-RAS and N-RAS Mutations in Indonesian Colorectal Cancer Cohort
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Discordance of Somatic Mutations Between Asian and Caucasian Patient Populations with Gastric Cancer
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New mutations and genotype–phenotype correlation in late-onset Pompe patients
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Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta
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Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome
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Novel mutations involving βI-, βIIA-, or βIVB-tubulin isotypes with functional resemblance to βIII-tubulin in breast cancer
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Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil
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Predicting the recurrence of noncoding regulatory mutations in cancer
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Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors
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Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees
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Whole-exome sequencing identifies two novel missense mutations (p.L111P and p.R3048C) of RYR3 in a Vietnamese patient with autism spectrum disorders
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Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study
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Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor