Publications by authors named "Isabelle Bacchi"

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3-M syndrome: evolution of the phenotype over time.
Isabelle Bacchi, Sara Vandelli, Emanuele Coccia, Lucrezia Giannini, Roberta Zuntini

Ital J Pediatr· December 2025

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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Isabelle Bacchi

Clin Genet· August 2025

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Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.
Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, Eliana Zacchi, Sara Calabrese, Isabelle Bacchi

Clin Genet· May 2025

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Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi

Neurogenetics· July 2024

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