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  Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion

  Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Enrico Calcagno, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

  2021-01-13

  Published: January 13, 2021

  597

  PDF: 319
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  Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

  Agostino Berio, Giacomo Garlaschi, Gian Luigi Mariottini, Enrico Calcagno, Attilia Piazzi

  2018-07-03

  Published: July 3, 2018

  723

  PDF: 379