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1. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Issue 9 (15th July 2008)

4. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. Issue 8 (14th August 2003)

5. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. Issue 3 (7th February 2007)