Search

Search Results

• 

  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

  Published: 29 December 2015

  1825

  PDF: 926

  HTML: 603
• 

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

  A. Berio, G. Garlaschi, A. Piazzi

  30-06-2014

  Published: 30 June 2014

  1194

  PDF: 1184
• 

  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

  Published: 27 June 2016

  1527

  PDF: 1123

  HTML: 347
• 

  Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant

  A. Berio, G. Mangiante, A. Piazzi

  30-12-2014

  Published: 30 December 2014

  1691

  PDF: 1674

• Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome

  A. Berio, A. Piazzi

  30-06-2013

  Published: 30 June 2013

  1420

  PDF: 1378
• 

  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

  Published: 15 December 2017

  1807

  PDF: 978

  HTML: 296