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Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy
Published: 27 June 20161527PDF: 1123HTML: 347 -
Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?
Published: 15 December 20171808PDF: 979HTML: 296 -
Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)
Published: 30 June 20141194PDF: 1184 -
Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia
Published: 29 December 20151825PDF: 926HTML: 603
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