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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

T. Salimova

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Open access Aug 2026

Thiamine-responsive megaloblastic anemia in two Ingush siblings with a homozygous SLC19A2 c.1223+1G>A variant

Thiamine-responsive megaloblastic anemia (Rogers syndrome; OMIM #249270) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC19A2 gene, which encodes the high-affinity thiamine transporter type 1. The disease is characterized by the classic triad of symptoms: megaloblastic anemia, non-autoimm...

M. Gurzhikhanova, T. Salimova, O. Goronkova et al. · 0 citations
Review Open access Aug 2026

Rare inherited bone marrow failure syndromes with cancer predisposition associated with SRP72, SH2B3, MYSM1 and CBL variants: a literature review and case series

The findings highlight the importance of early molecular genetic testing in children with persistent hematopoietic abnormalities, along with regular cytogenetic surveillance and timely referral of high-risk patients for HSCT.

M. S. Vasilyeva, A. Pavlova, D. Fedorova et al. · 0 citations

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