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  • Deborah Bartholdi, Martin E. Schwab
  • Medicine, Biology
  • The European journal of neuroscience
  • 1997 (First Publication: 1 July 1997)
  • Injury to the spinal cord induces a complex cascade of cellular reactions at the local lesion area: secondary cell death and inflammatory reactions as well as scar and cavity formation take place. InContinue Reading
  • Emma Hilton, Jennifer Johnston, +34 authors Graeme C M Black
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2009 (First Publication: 1 October 2009)
  • Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mentalContinue Reading
  • Sheila Unger, Detlef Boehm, +18 authors Juergen Kohlhase
  • Biology, Medicine
  • Nature Genetics
  • 2008 (First Publication: 1 March 2008)
  • We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother–daughter pair. Toe syndactyly, telecanthus and anogenital andContinue Reading
  • Deborah Bartholdi, Beatrix P. Rubin, Martin E. Schwab
  • Medicine, Biology
  • The European journal of neuroscience
  • 1997 (First Publication: 1 December 1997)
  • The multiple cellular and molecular processes induced by injury to the central nervous system (CNS) are still poorly understood. In the present study, we investigated the response of the vasculatureContinue Reading
  • María Valencia, Pablo Lapunzina, +14 authors Víctor L Ruiz-Pérez
  • Medicine, Biology
  • Human mutation
  • 2009 (First Publication: 1 December 2009)
  • Autosomal recessive Ellis-van Creveld syndrome and autosomal dominant Weyer acrodental dysostosis are allelic conditions caused by mutations in EVC or EVC2. We performed a mutation screening study inContinue Reading