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Scientific Reports|June 27, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestationsAndrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, et al.
Current Genomics|September 28, 2018
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological DisordersValentina La Cognata, Giovanna Morello, Giulia Gentile, et al.
Scientific Reports|June 17, 2022
Neonatal neurologic emergencies requiring access to paediatric emergency units: a retrospective observational studyRaffaele Falsaperla, Giovanna Vitaliti, Monica Sciacca, et al.
Frontiers in Neurology|November 7, 2022
Case report: Incidence and prognostic value of brain MRI lesions and elevated cerebrospinal fluid protein in children with Guillain-Barré syndromeFrancesco Pizzo, Alessandra Di Nora, Alessia Di Mari, et al.
American Journal of Medical Genetics. Part A|May 6, 2015
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxityVincenzo Salpietro, Martino Ruggieri, Kshitij Mankad, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 30, 2013
Evaluation of the basal ganglia in neurofibromatosis type 1Francesco Nicita, Claudio Di Biasi, Saadi Sollaku, et al.
Children (Basel, Switzerland)|January 8, 2025
Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic ReviewRaffaele Falsaperla, Rosanna Zanai, Ausilia Desiree Collotta, et al.
Neurogenetics|February 5, 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 yearMartino Ruggieri, Anna Lia Gabriele, Agata Polizzi, et al.
JIMD Reports|May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
Nutrients|February 26, 2025
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the LiteratureGuido Leone, Concetta Meli, Raffaele Falsaperla, et al.
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