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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 26, 2020
Craniofacial bone alterations in patients with neurofibromatosis type 1Julie Chauvel-Picard, Laurence Lion-Francois, Pierre-Aurélien Beuriat, et al.European Neurology|November 21, 2016
Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 PatientsChloé Laurencin, Anne Sophie Brunet, Jérôme Dumortier, et al.Molecular Genetics & Genomic Medicine|August 28, 2019
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literatureAmerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, et al.Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.Pageof 1