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Children (Basel, Switzerland)|May 16, 2023
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and ManagementMaísa Malta, Rowim AlMutiri, Christine Saint Martin, et al.Children (Basel, Switzerland)|March 29, 2023
Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual DisabilityRowim AlMutiri, Maisa Malta, Michael I Shevell, et al.American Journal of Medical Genetics. Part A|May 30, 2023
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorderGhadd Alhajaj, Caroline Lacroix, Yannis Trakadis, et al.European Journal of Medical Genetics|October 29, 2013
De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disabilityMohammed Almuqbil, Fadi F Hamdan, Géraldine Mathonnet, et al.Frontiers in Neurology|November 3, 2022
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 casesSarah Alsubhi, Bradley Osterman, Nicolas Chrestian, et al.Developmental Medicine and Child Neurology|October 16, 2018
Developmental outcomes in children with congenital cerebellar malformationsElana F Pinchefsky, Andrea Accogli, Michael I Shevell, et al.Pediatric Neurology|December 25, 2018
Diagnostic Yield of Intellectual Disability Gene PanelsHeather Pekeles, Andrea Accogli, Nassima Boudrahem-Addour, et al.Frontiers in Neurology|March 30, 2018
Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 VariantAbdulla Alawadhi, Christine Saint-Martin, Farhan Bhanji, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 19, 2023
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variantsAhmed N Sahly, Myriam Srour, Daniela Buhas, et al.Journal of Child Neurology|May 10, 2017
Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 CasesCallie Alt, Michael I Shevell, Chantal Poulin, et al.Pageof 11