Chiara De Luca

<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Linyan Meng, Pirjo Isohanni, Yunru Shao et al. · Annals of Neurology · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Andrea Accogli, Gert Wiegand, Marcello Scala et al. · Neurology · 2021 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bilateral internal mammary artery for multi-territory myocardial revascularization: long-term follow-up of pedicled versus skeletonized conduits†

Michele Di Mauro, Angela L. Iacò, Angelo Acitelli et al. · European Journal of Cardio-Thoracic Surgery · 2014 · 20 citations · Full text

Medicine, Cardiology, Surgery +16

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Maria Asif, Emrah Kaygusuz, Marwan Shinawi et al. · Human Genetics and Genomics Advances · 2022 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Dianne Laboy Cintrón, Alison M. Muir, Abbey Scott et al. · Human Genetics and Genomics Advances · 2021 · 11 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16