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BMC Medical Genetics|April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndromeCristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Scientific Reports|January 16, 2023
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorderPasquale Tomaiuolo, Ignazio Stefano Piras, Simona Baghai Sain, et al.
Molecular Genetics & Genomic Medicine|May 15, 2023
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorderFrancesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, et al.
Scientific Reports|October 21, 2015
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumorsGaia Roversi, Chiara Picinelli, Ilaria Bestetti, et al.
Frontiers in Genetics|November 22, 2019
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar PhenotypesMilena Crippa, Maria Teresa Bonati, Luciano Calzari, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 12, 2020
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association studyIgnazio Stefano Piras, Chiara Picinelli, Raffaele Iennaco, et al.
Journal of Neurodevelopmental Disorders|May 27, 2026
Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndromeLaura Sandoni, Fethia Chehbani, Lisa Asta, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex familyFrancesca Cucinotta, Arianna Ricciardello, Laura Turriziani, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
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