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American Journal of Medical Genetics. Part A|April 15, 2008
No major role for the EMX2 gene in schizencephalyElisa Merello, Eric Swanson, Patrizia De Marco, et al.
Human Mutation|March 10, 2017
Rare deleterious variants in GRHL3 are associated with human spina bifidaPhilippe Lemay, Patrizia De Marco, Alexandre Emond, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 17, 2009
Treatment and outcome of children with cerebral cavernomas: a survey on 32 patientsAlessandro Consales, Gianluca Piatelli, Marcello Ravegnani, et al.
European Journal of Medical Genetics|December 4, 2025
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansionFerruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, et al.
European Journal of Medical Genetics|July 21, 2018
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformationsAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.
International Journal of Molecular Sciences|July 29, 2025
Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related SchwannomatosisMarzia Ognibene, Gianluca Piccolo, Marco Crocco, et al.
Birth Defects Research|February 5, 2025
Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1Ferruccio Romano, Maria Cerminara, Patrizia De Marco, et al.
Frontiers in Oncology|June 26, 2020
Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot StudyFederica Garibotto, Francesca Madia, Claudia Milanaccio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndromeValeria Capra, Roberta Biancheri, Giovanni Morana, et al.
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