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Haematologica,
Oct 2025
|
110
(11),
2819-2822
DOI: 10.3324/haematol.2025.287393
Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature
Parisi, Lorenzo ;
Escher, Robert
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PRODUCTS USED
NGS
ABSTRACT
PRODUCTS USED
NGS
Thesis,
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Systemic evaluation of genetic variants in transcriptomic changes of systemic immune landscapes in non-small cell lung cancer patients treated with immune checkpoint inhibitors
NGS
bioRxiv,
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Bacteria sense virus-induced genome degradation via methylated mononucleotides
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Bright mutant beetle luciferases: performance in bioluminescence detection in live mammalian cells and insights into their spectral mechanism by tagging them with fluorescent proteins
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