„Mutations“
Suchergebnisse
10.000+ Treffer
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Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
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The sex-limited effects of mutations in the EGFR and TGF-β signaling pathways on shape and size sexual dimorphism and allometry in the Drosophila wing
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Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations
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Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds
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Novel Mutations Causing C5 Deficiency in Three North-African Families
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KRAS and Combined KRAS/TP53 Mutations in Locally Advanced Rectal Cancer are Independently Associated with Decreased Response to Neoadjuvant Therapy
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Spatio-temporal genetic heterogeneity of CTNNB1 mutations in sporadic desmoid type fibromatosis lesions
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Schedule-dependent cytotoxicity of sunitinib and TRAIL in human non-small cell lung cancer cells with or without EGFR and KRAS mutations
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Author Correction: Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
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Exonic mutations in SCN9A (Na V 1.7) are found in a minority of patients with erythromelalgia
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The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
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Cooperating, congenital neutropenia–associated Csf3r and Runx1 mutations activate pro-inflammatory signaling and inhibit myeloid differentiation of mouse HSPCs
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Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
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Mitochondrial mutations drive prostate cancer aggression
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Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency
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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
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MUTE‐Seq: An Ultrasensitive Method for Detecting Low‐Frequency Mutations in cfDNA With Engineered Advanced‐Fidelity FnCas9 (Adv. Mater. 47/2025)
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Cover Feature: Allosteric Effects of EF‐G Domain I Mutations Inducing Ribosome Frameshifting Revealed by Multiplexed Force Spectroscopy (ChemBioChem 19/2024)
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Front Cover: Effects of Clinical Mutations in the Second Coordination Sphere and Remote Regions on the Catalytic Mechanism of Non‐Heme Fe (II)/2‐Oxoglutarate‐Dependent Aspartyl Hydroxylase AspH (ChemPhysChem 18/2024)
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Dynamics of Molecular Self‐Assembly of Short Peptides at Liquid–Solid Interfaces – Effect of Charged Amino Acid Point Mutations (Small 25/2024)