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

Author

G. Repetto

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2 papers indexed here

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Oct 2026

Computer-Aided Facial Analysis and Non-Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study.

While exome sequencing (ES) reanalysis is recommended for patients undiagnosed after initial analysis, the combination of computer-aided facial phenotyping with targeted examination of non-coding variants remains underexplored. We aimed to identify the molecular etiology in undiagnosed cases from the DECIPHERD study (n...

Daniela Böhme, V. Faundes, M. Poli et al. · 0 citations
Open access Sep 2026

The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study

Abstract Background 22q11.2 deletion syndrome (22q11DS) is strongly associated with aberrant neurodevelopment, including decreased cognitive functioning and schizophrenia spectrum disorders (SSDs). While the different core domains of IQ have distinct clinical ramifications, their collective profile has not been well-ch...

A. Fiksinski, Rielle Wierenga, D. McDonald-McGinn et al. · 0 citations

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