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European Journal of Medical Genetics|November 22, 2008
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndromeValeria Capra, Patrizia De Marco, Elisa Merello, et al.Birth Defects Research|November 8, 2022
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issuesFerruccio Romano, Francesca Madia, Patrizia De Marco, et al.Biomedicines|January 20, 2021
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 ChannelPaola Imbrici, Andrea Accogli, Rikard Blunck, et al.Neuroradiology|April 22, 2022
Spinal involvement in pediatric familial cavernous malformation syndromeAna Filipa Geraldo, Aysha Luis, Cesar Augusto P F Alves, et al.Journal of Medical Genetics|March 26, 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defectsPhilippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, et al.European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.Frontiers in Pediatrics|August 17, 2023
Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral centerSilvia Buratti, Marisa Mallamaci, Giulia Tuo, et al.Cancer Genetics|December 3, 2014
Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney)Luca Pio, Claudia Milanaccio, Samantha Mascelli, et al.BMC Cancer|August 17, 2013
Molecular fingerprinting reflects different histotypes and brain region in low grade gliomasSamantha Mascelli, Annalisa Barla, Alessandro Raso, et al.Pageof 18