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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

  • Undiagnosed Diseases Network
  • Tel Aviv Sourasky Medical Center
  • Rambam Health Care Campus Israel
  • Technion-Israel Institute of Technology
  • Monash University
  • Regeneron Pharmaceuticals, Inc.
  • Hadassah University Medical Centre
  • Hebrew University of Jerusalem
  • DDC Clinic - Center for Special Needs Children
  • Phoenix Children's Hospital
  • University of Arizona
  • Women's and Children's Hospital Adelaide
  • South Australian Health And Medical Research Institute
  • University of Calgary
  • Max Planck Institute of Immunobiology and Epigenetics
  • University of Antwerp
  • Duke University
  • Royal Melbourne Institute of Technology University
  • Istanbul University
  • Bogazici University
  • Rambam Healthcare Campus
  • Medical University Sofia

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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Neuroscience

Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology