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American Journal of Medical Genetics. Part A|September 10, 2016
Prenatal diagnosis of Simpson-Golabi-Behmel syndromePamela Magini, Flavia Palombo, Simona Boito, et al.
Italian Journal of Pediatrics|April 30, 2014
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysisElisa Caramaschi, Ilaria Stanghellini, Pamela Magini, et al.
Epilepsia|July 4, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathyLaura Licchetta, Giulia Bruschi, Tania Giangregorio, et al.
The Journal of Molecular Diagnostics : JMD|May 8, 2022
Third-Generation Cytogenetic Analysis: Diagnostic Application of Long-Read SequencingPamela Magini, Alessandra Mingrino, Barbara Gega, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9Pamela Magini, Clara Marco-Marin, Juan M Escamilla-Honrubia, et al.
Gene|May 16, 2019
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disordersPamela Magini, Emanuela Scarano, Ilaria Donati, et al.
Epilepsia|May 14, 2013
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotypeLaura Licchetta, Tommaso Pippucci, Francesca Bisulli, et al.
Human Molecular Genetics|February 1, 2015
Messenger RNA processing is altered in autosomal dominant leukodystrophyAnna Bartoletti-Stella, Laura Gasparini, Caterina Giacomini, et al.
Epilepsia|March 4, 2014
Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31Francesca Bisulli, Ilaria Naldi, Sara Baldassari, et al.
Molecular Cytogenetics|August 4, 2015
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degenerationPamela Magini, Monica Poscente, Simona Ferrari, et al.
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