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European Journal of Pediatrics|May 16, 2022
Epilepsy in a cohort of children with Noonan syndrome and related disordersChiara Davico, Rossella D'Alessandro, Marta Borgogno, et al.Journal of Medical Genetics|January 27, 2025
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowthAndrea Gazzin, Giuseppe Reynolds, Stefania Massuras, et al.Genes, Chromosomes & Cancer|July 3, 2023
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowthMaria Luca, Marilidia Piglionica, Rosanna Bagnulo, et al.Acta Paediatrica (Oslo, Norway : 1992)|January 18, 2018
Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS])Xavier Carbonell-Estrany, Alberto Dall'Agnola, John R Fullarton, et al.Pediatric Nephrology (Berlin, Germany)|October 22, 2011
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndromeAlessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.Hormone Research in Paediatrics|December 8, 2010
Levothyroxine treatment in pediatric benign thyroid nodulesAndrea Corrias, Alessandro Mussa, Malgorzata Wasniewska, et al.Case Reports in Gastroenterology|January 8, 2015
Gastrostomy Intraperitoneal Bumper Migration in a Three-Year-Old Child: A Rare Complication following Gastrostomy Tube ReplacementRiccardo Guanà, Luca Lonati, Claudio Barletti, et al.Journal of Genetics|March 12, 2021
Atypical microdeletion 22q11.2 in a patient with tetralogy of FallotDiana Carli, Alice Moroni, Di Gregorio Eleonora, et al.Genes, Chromosomes & Cancer|January 28, 2025
Novel PDGFRB Gene Fusions in Two Cases of Infantile MyofibromatosisFederica Boccia, Sabina Barresi, Silvia Vallese, et al.Pageof 16