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Clinical Genetics|November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotypeChiara Ticci, Claudia Nesti, Anna Rubegni, et al.
Minerva Pediatrics|September 25, 2024
Feeding and eating disorders in children and adolescents during the COVID-19 pandemic: real-word data from an observational, naturalistic studyJacopo Pruccoli, Simone Rosa, Francesca Chiavarino, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancerGiulia Severi, Laura Bernardini, Silvana Briuglia, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 8, 2021
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonatesRobertino Dilena, Federico Raviglione, Gaetano Cantalupo, et al.
The Journal of Pediatrics|July 3, 2026
Multimodal neuromonitoring in neonatal hypoxic-ischemic encephalopathy and the association with neurodevelopmental outcomes: A Multicenter StudyCelina L Brunsch, Sara De Crescenzo, Linda C Meiners, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Frontiers in Neurology|June 27, 2022
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-SeriesAndrea Santangelo, Emanuele Bartolini, Giulia Nuzzi, et al.
Epilepsy & Behavior : E&B|October 7, 2021
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individualsEmilia Ricci, Anna Fetta, Livia Garavelli, et al.
Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.
Epilepsia|March 24, 2025
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world studyEmanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H Caraballo, et al.
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