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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Spina bifida and folate-related genes: a study of gene-gene interactionsRaffaella de Franchis, Lorenzo D Botto, Gianfranco Sebastio, et al.American Journal of Medical Genetics. Part A|January 10, 2018
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusionsMarcello Scala, Andrea Accogli, Elisa De Grandis, et al.Journal of Pediatric Surgery|December 6, 2014
Urological outcome in patients with Currarino syndromeLuca Pio, Gianluca Piatelli, Andrea Rossi, et al.Journal of Neurosurgery. Pediatrics|January 30, 2016
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experiencePietro Fiaschi, Marco Pavanello, Alessia Imperato, et al.Frontiers in Neurology|November 15, 2021
Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth HormoneMarco Crocco, Marta Panciroli, Claudia Milanaccio, et al.World Neurosurgery|February 23, 2016
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the LiteraturePietro Fiaschi, Mariasavina Severino, Giuseppe Marcello Ravegnani, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 31, 2023
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathySilvia Boeri, Marcello Scala, Francesca Madia, et al.Brain & Development|September 28, 2011
Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?Laura Bergamino, Valeria Capra, Roberta Biancheri, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|November 5, 2004
Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defectsElisa Merello, Patrizia De Marco, Anna Moroni, et al.Human Molecular Genetics|November 9, 2013
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathwayRedouane Allache, Stéphanie Lachance, Marie Claude Guyot, et al.Pageof 18