Osteogenesis Imperfecta with a gross deletion including the <i>COL1A1</i> gene, induced by Alu-driven microhomology-mediated end joining. [PDF]
Yamamoto K +12 more
europepmc +1 more source
U-shaped association of the non-HDL/HDL ratio with cognitive impairment identified by conventional analyses and machine learning in health examination participants in Liuyang. [PDF]
Chen X, Lin R, Zhao L, He Y, Zhu T.
europepmc +1 more source
DNA sequence contamination analyzer (DNASCAN): a supervised analysis toolkit for detecting and removing DNA contaminants. [PDF]
Malamon JS.
europepmc +1 more source
A de novo assembly based fusion gene detection concept based on DNA-seq data of 100 Ewing sarcoma cases. [PDF]
Zhao X, Hotfilder M, Korsching E.
europepmc +1 more source
Activity of novel antibiotics against dual metallo-Beta-lactamase producing Enterobacter hormaechei clinical isolates. [PDF]
Solar C +10 more
europepmc +1 more source
DeepECC: a deep learning framework for genome-wide identification and analysis of human cancer eccDNAs. [PDF]
Wang C +9 more
europepmc +1 more source
Evaluation of an <i>in vivo</i> pulmonary aspergillosis model for triazole susceptibility breakpoint development. [PDF]
Lepak A +9 more
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<i>Brucella</i>'s Emerging Threat: A Global Systematic Review and Meta-Analysis Revealing Temporal, Geographic and Species-Specific Patterns of Antimicrobial Resistance. [PDF]
Tut G.
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Atypical Gene Rearrangement of the COL1A1::PDGFB Fusion in Dermatofibrosarcoma Protuberans of the Abdominal Wall: A Case Report. [PDF]
Bejbl J +3 more
europepmc +1 more source
Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]
Turtinen T +8 more
europepmc +1 more source

