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2. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014)

3. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis. Issue 6 (25th March 2014)