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Mutations in KPTN Cause Macrocephaly,Neurodevelopmental Delay,and Seizures
Authors:Emma L Baple  Reza Maroofian  Barry A Chioza  Maryam Izadi  Harold E Cross  Saeed Al-Turki  Katy Barwick  Anna Skrzypiec  Robert Pawlak  Karin Wagner  Roselyn Coblentz  Tala Zainy  Michael A Patton  Sahar Mansour  Phillip Rich  Britta Qualmann  Matt E Hurles  Michael M Kessels  Andrew H Crosby
Institution:1 Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke’s Campus, Magdalen Road, Exeter EX1 2LU, UK;2 Institute for Biochemistry I, Jena University Hospital and Friedrich Schiller University Jena, D-07743 Jena, Germany;3 Department of Ophthalmology and Vision Science, University of Arizona School of Medicine, 655 N. Alvernon Way, Tucson, AZ 85711, USA;4 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK;5 Laboratory of Neuronal Plasticity & Behaviour, University of Exeter Medical School, Hatherly Laboratories, Prince of Wales Road, Exeter EX4 4PS, UK;6 Windows of Hope Genetic Study, Holmes County, OH 44687, USA;7 South West Thames Regional Genetics Service, St. George’s Healthcare NHS Trust, London SW17 0QT, UK;8 Department of Neuroradiology, St. George’s Hospital, London SW17 0QT, UK
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