Claudia Maria Bonardi

10PUBLICATIONS
50CO-AUTHORS
Respiratory diseasesGene expression (incl. microarray and other genome-wide approaches)Infant and child healthElectrical energy transmission, networks and systemsMajor global burdens of disease
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Publications (10)

|Jan 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Claudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig

|Mar 13, 2023
Apneas requiring respiratory support in young infants with COVID-19: a case series and literature review.

Chiara Paolin, Lorenzo Zanetto, Sara Frison

|Dec 11, 2022
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

Grigori Y Rychkov, Zeeshan Shaukat, Chiao Xin Lim

|Jul 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Hannah Stamberger, David Crosiers, Ganna Balagura

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