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Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?
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- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2022, v. 95, n. 1, p. 73, doi. 10.4081/jbr.2022.10308
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- Article
Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion.
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- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2020, v. 93, n. 2, p. 123, doi. 10.4081/jbr.2020.9259
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- Article
Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum.
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- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2019, v. 92, n. 1, p. 17, doi. 10.4081/jbr.2019.8001
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- Article
Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects.
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- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2018, v. 91, n. 1, p. 56, doi. 10.4081/jbr.2018.7214
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- Article
Gluten sensitivity and neurological manifestations.
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- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2015, v. 88, n. 2, p. 170, doi. 10.4081/jbr.2015.5405
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- Article