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  Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

  Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio

  27-06-2016

  https://doi.org/10.4081/pmc.2016.121

  1772

  PDF: 1243

  HTML: 353
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  Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

  Agostino Berio, Attilia Piazzi, Carlo Enrico Traverso

  15-12-2017

  https://doi.org/10.4081/pmc.2017.169

  2151

  PDF: 1131

  HTML: 319
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  Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

  A. Berio, G. Garlaschi, A. Piazzi

  30-06-2014

  https://doi.org/10.4081/pmc.2014.11

  1417

  PDF: 1361
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  Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia

  Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

  29-12-2015

  https://doi.org/10.4081/pmc.2015.123

  2103

  PDF: 1077

  HTML: 624