खोज परिणाम - Guo-min Li
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Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review
प्रकाशित 2025-06-01पूर्ण पाठ प्राप्त करेंBackground: Type II DNA topoisomerases (EC5.99.1.3) are enzymes that catalyze topological changes during DNA replication and gene transcription in an ATP-dependent manner. Vertebrates have two isoforms: topoisomerase IIα and β. Type II topoisomerase β is encoded by TOP2B. For TOP2B, a number of germ...
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A Chinese girl with neuromyelitis optica spectrum disorder coexisting with primary Sjogren’s syndrome: a case report and literature review
प्रकाशित 2025-07-01पूर्ण पाठ प्राप्त करेंIntroductionNeuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated, typically relapsing central nervous system demyelinating disorder characterized by optic neuritis (ON) and transverse myelitis (TM). While systemic or organ-specific autoimmune comorbidities are well-documented in 20–3...
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