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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

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Eric Vilain

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Open access Oct 2026

Recurring and isolated intronic FGFR1 variants as an underdiagnosed cause of congenital hypogonadotropic hypogonadism

Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a genetically heterogeneous disorder characterized by absent or delayed puberty and infertility due to gonadotropin-releasing hormone deficiency. While loss-of-function variants in FGFR1 are the most commonly known genetic cause of CHH, diagnostic sc...

Michal Yacobi-Bach, Rona Hagin, Bar Levy Lando et al. · 0 citations
Open access Sep 2026

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Congenital Adrenal Hyperplasia (CAH) can result from variants in several genes but is most frequently caused by deletions and gene conversions in the segmentally duplicated RCCX module, which contains the CYP21A2 gene and its pseudogene. Current genetic tests vary greatly by laboratory, method, and consequently diagnos...

Emmanuèle C. Délot, Eric Vilain · 0 citations

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