Publications by authors named "Eric Puffenberger"

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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Nina Bögershausen, Nassim Shahrzad, Jessica X Chong, Jürgen-Christoph von Kleist-Retzow, Daniela Stanga, Eric G Puffenberger

Am J Hum Genet· July 2013

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Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.
Elizabeth A Streeten, Daniel McBride, Eric Puffenberger, Marc E Hoffman, Toni I Pollin

Bone· September 2008

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