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Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

  • Thierry Vilboux,

    Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  • Carla Ciccone,

    Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  • Jan K. Blancato,

    Affiliation Department of Oncology, Georgetown University Medical Center, Washington, D.C., United States of America

  • Gerald F. Cox,

    Affiliations Division of Genetics, Department of Pediatrics, Harvard Medical School, Children's Hospital Boston, Boston, Massachusetts, United States of America, Genzyme Corporation, Cambridge, Massachusetts, United States of America

  • Charu Deshpande,

    Affiliation Department of Genetics, Guy's Hospital, London, United Kingdom

  • Wendy J. Introne,

    Affiliation Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  • William A. Gahl,

    Affiliations Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  • Ann C. M. Smith,

    Affiliation Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  • Marjan Huizing

    mhuizing@mail.nih.gov

    Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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