المؤلفون: Sundaramurthi, Jagadish, Bagley, Anita, Blau, Hannah, Carmody, Leigh, Crandall, Amy, Danis, Daniel, Gargano, Michael, Gustafson, Anxhela, Raney, Ellen, Shingle, Mallory, Robinson, Peter, Davids, Jon

المصدر: Cold Spring Harbor Molecular Case Studies. 9(4)

مصطلحات موضوعية: absent speech, bilateral convulsive seizures, bilateral talipes equinovarus, broad forehead, deeply set eye, intellectual disability, moderate, language impairment, moderate global developmental delay, thoracic scoliosis, torticollis, Humans, Cerebral Palsy, Intellectual Disability, Mutation, Missense, Phenotype, Nervous System Malformations, TRPM Cation Channels

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1290j8rm
https://escholarship.org/content/qt1290j8rm/qt1290j8rm.pdf

المؤلفون: Javier Salas-Puig, Francisco Martínez-Ricarte, Xavier Maldonado, Jordi Rodon, Manuel Toledo, Estevo Santamarina, Cristina Auger, Silvana Sarria-Estrada, Manuel Quintana, Elena Martínez-Sáez

المصدر: Clinical Neurology and Neurosurgery. 139:166-171

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Tumor resection, Disease, Young Adult, Epilepsy, medicine, Humans, Medical history, Psychiatry, Survival rate, Aged, Retrospective Studies, Brain Neoplasms, business.industry, General Medicine, Middle Aged, medicine.disease, Sample group, Disease Progression, Anticonvulsants, Female, Surgery, Neurology (clinical), Bilateral convulsive seizures, Glioblastoma, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1caa4d414c3dfd65ba920cf634b9fdf6
https://doi.org/10.1016/j.clineuro.2015.10.002