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  • Luiz Fernando Onuchic, Laszlo Furu, +15 authors Gregory G. Germino
  • Biology, Medicine
  • American journal of human genetics
  • 2002 (First Publication: 1 May 2002)
  • Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys andExpand
  • Nadine Schoenherr, Esther Meyer, Andreas Roos, Angela Schmidt, Hartmut A. Wollmann, Thomas Eggermann
  • Biology, Medicine
  • Journal of Medical Genetics
  • 2006 (First Publication: 6 July 2006)
  • Silver–Russell syndrome (SRS) is a heterogeneous disorder characterised by severe intrauterine and postnatal growth retardation, limb and body asymmetry, a typical facial appearance and less commonExpand
  • Frédéric Brioude, Jennifer M Kalish, +38 authors Eamonn R. Maher
  • Medicine
  • Nature Reviews Endocrinology
  • 2018 (First Publication: 29 January 2018)
  • Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatalExpand
  • Carsten Bergmann, Klaus Zerres, +5 authors Vincent Th Ramaekers
  • Medicine
  • Brain : a journal of neurology
  • 2003 (First Publication: 22 April 2003)
  • We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotypeExpand
  • Thomas Eggermann
  • Medicine, Biology
  • American journal of medical genetics. Part C…
  • 2010 (First Publication: 15 August 2010)
  • In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatalExpand