Browse All

Current Filters

CLEAR FILTER x

TITLE

Minigene Assay of an Intronic Variant to Investigate Phenotypic Variability of ATP1A3 Splice Variants

Author:Lara, Orlando   Mochida, Ganeshwaran   Yu, Timothy   Calame, Daniel   Yano, Sho   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.005  

Author Institution:University of Chicago, Chicago, IL  Boston Children’s Hospital, Boston, MA  Baylor College of Medicine, Child Neurology, Houston, TX  

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Syndrome: Case Series and Systematic Review

Author:Garcia Velazquez, Sandra Azareli   Parra Díaz, Paloma   Altintas, Burak   Hadouri, Nawale   Durham, Emily   Martin, Shayanne   Monteil, Arnaud   Gooch, Catherine   Gil-Nagel, Antonio   Calame, Daniel   Tanner, Jeremy   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.008  

Author Institution:University of Texas Health Science Center San Antonio, San Antonio, TX  Hospital Universitario Ramón y Cajal, Hospital Ruber Internacional, Fundación Iniciativa para las Neurociencias (FINCE), Spain  Washington University in St. Louis, MO  Dijon-Bourgogne University Hospital, France  Channeling Hope Foundation, TX  Institute of Functional Genomics, University of Montpellier, CNRS, Inserm, France  Hospital Ruber Internacional, Madrid, Spain  Baylor College of Medicine, Child Neurology, Houston, TX