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

Author

Nicola Cronbach

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2 papers indexed here

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Open access Sep 2026

Early Eye Organoids Demonstrate Cadherin and Semaphorin Disruption in PAX6-Related Aniridia

A novel link between the cadherins, semaphorins and aniridia is revealed and a novel pathway that may contribute to iris and foveal hypoplasia in patients with pathogenic PAX6 variants is suggested.

Nicola Cronbach, Gabriela Justynska, Cécile Méjécase et al. · 0 citations
Open access Aug 2026

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes

The study shows the importance of a complete clinical and genetic diagnosis to enable accurate diagnosis and genetic counselling for affected individuals and reports a novel variant c.985del p.(His329Thrfs*57) associated with PHARC syndrome.

Sara Romero-Vázquez, Cécile Méjécase, A. Rodriguez-Martinez et al. · 0 citations

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