Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
Christiane K. Bauer(Universität Hamburg), Marco Tartaglia(Bambino Gesù Children's Hospital), M. Cristina Digilio(Bambino Gesù Children's Hospital), Daniela Judith Claps Sepulveda(Bambino Gesù Children's Hospital), Simone Pizzi(Bambino Gesù Children's Hospital), Maria Lisa Dentici(Casa Sollievo della Sofferenza), Alessandro Bruselles(Istituto Superiore di Sanità), Gianfranco Bocchinfuso(University of Rome Tor Vergata), Paolo Calligari(University of Rome Tor Vergata), Giuseppe Zampino(Università Cattolica del Sacro Cuore), Roberta Battini(Fondazione Stella Maris), Viviana Caputo(Sapienza University of Rome), Lorenzo Stella(University of Rome Tor Vergata), Sabina Barresi(Bambino Gesù Children's Hospital), Francesca Clementina Radio(Bambino Gesù Children's Hospital), Andrea Ciolfi(Bambino Gesù Children's Hospital), Megan T. Cho, Sarah Richards, S. Pro(Bambino Gesù Children's Hospital), N Falah(Nemours Children's Clinic), Richard Person(GenVec), Francesca Pantaleoni(Istituto Superiore di Sanità), Frances A. High(Harvard University), Bruno Dallapiccola(Bambino Gesù Children's Hospital)
Cited by 96
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
|Journal of Medical Genetics|1997|1.2k