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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

F. Laffargue

h-index 14 View on Semantic Scholar

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Open access Jul 2026

Unveiling ocular developmental disorders through short-read whole-genome sequencing.

It is demonstrated that short-read WGS significantly improves diagnostic yield in patients with congenital eye malformations, including those previously undiagnosed despite NGS panel testing.

Bertrand Chesneau, Timotéo Cousteix, Abdelhakim Bouazzaoui et al. · 1 citation · ⚡1
Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · 0 citations

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