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  • Christina Halgren, Susanne Kjaergaard, +21 authors Iben Bache
  • Biology, Medicine
  • Clinical genetics
  • 2012 (First Published: 1 September 2012)
  • Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations withContinue Reading
  • José María Rovira Belloso, Iben Bache, +6 authors Zeynep Tümer
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2007 (First Published: 1 June 2007)
  • Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system. Recently, truncation of the CNTNAP2 gene coding forContinue Reading
  • Christina Halgren, Iben Bache, +4 authors Niels Tommerup
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2012 (First Published: 1 December 2012)
  • Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, andContinue Reading