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Your search keyword '"Marcin Szynkiewicz"' showing total 6 results

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6 results on '"Marcin Szynkiewicz"'

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1. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

2. Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

3. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

4. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

5. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

6. Differential regulation of oestrogen receptor β isoforms by 5' untranslated regions in cancer

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