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  • Anita Rauch, Juliane Hoyer, +10 authors Udo Trautmann
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2006 (First Publication: 1 October 2006)
  • The underlying cause of mental retardation remains unknown in up to 80% of patients. As chromosomal aberrations are the most common known cause of mental retardation, several new methods based onContinue Reading
  • Katrin Hoffmann, Christine Dreger, +14 authors Karl Sperling
  • Medicine, Biology
  • Nature Genetics
  • 2002 (First Publication: 1 August 2002)
  • Pelger–Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals showContinue Reading
  • Francesca Pasutto, Tomoya Matsumoto, +14 authors André Reis
  • Biology, Medicine
  • American journal of human genetics
  • 2009 (First Publication: 1 October 2009)
  • Glaucoma, a main cause of blindness in the developed world, is characterized by progressive degeneration of retinal ganglion cells (RGCs), resulting in irreversible loss of vision. Although membersContinue Reading
  • Juliane Hoyer, Arif B. Ekici, +17 authors André Reis
  • Medicine, Biology
  • American journal of human genetics
  • 2012 (First Publication: 1 March 2012)
  • Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genesContinue Reading
  • Christiane Zweier, Maarit M Peippo, +17 authors Anita Rauch
  • Biology, Medicine
  • American journal of human genetics
  • 2007 (First Publication: 1 May 2007)
  • Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping withContinue Reading