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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

E. Bertini

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Review Open access Sep 2026

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study

Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...

Luisa Semmler, B. Büchner, C. Kornblum et al. · 0 citations
Open access Aug 2026

Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities

It is indicated that reduced protein stability and functional impairment of β-tubulin represent key pathogenic mechanisms underlying this condition, and the experimental evidence further supports the implication of TUBB dysfunctions in haematological abnormalities.

Ilaria Svezia, Riccardo Zocchi, Michela Piccione et al. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations

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