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Prenatal Diagnosis|July 23, 2025
An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBLBeatrice Burzio, Giulia Rosti, Francesca Madia, et al.
Internal Medicine (Tokyo, Japan)|December 9, 2010
Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titerMarco Luigetti, Francesca Madia, Amelia Conte, et al.
Epilepsia|January 6, 2006
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsyPasquale Striano, Francesca Madia, Carlo Minetti, et al.
European Journal of Orthopaedic Surgery & Traumatology : Orthopedie Traumatologie|October 17, 2020
Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomesMichela Saracco, Rocco Maria Panzera, Barbara Merico, et al.
Genes|February 25, 2023
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical SettingFederica Saia, Adriana Prato, Lucia Saccuzzo, et al.
Epilepsia|July 25, 2007
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsyPasquale Striano, Antonietta Coppola, Francesca Madia, et al.
Prenatal Diagnosis|May 20, 2024
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?Giulia Biancotto, Giulia Rosti, Francesca Madia, et al.
Birth Defects Research|May 3, 2017
A novel Xp22.13 microdeletion in Nance-Horan syndromeAndrea Accogli, Monica Traverso, Francesca Madia, et al.
Brain Sciences|June 21, 2020
Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center ExperienceMarco Luigetti, Angela Romano, Andrea Di Paolantonio, et al.
Seizure|March 24, 2018
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsyMaria Stella Vari, Monica Traverso, Tommaso Bellini, et al.
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