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

Autor: Berio, Agostino¹, Mariottini, Gian Luigi² Gian.Luigi.Mariottini@unige.it, Frascio, Marco³, Calcagno, Enrico³, Garlaschi, Giacomo⁴, Mangiante, Giuseppe¹, Piazzi, Attilia¹

Publikováno v: Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale. 2020, Vol. 93 Issue 2, p123-129. 7p.

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

Autor: Berio, Agostino¹ agostinoberio@gaslini.org, Garlaschi, Giacomo², Mariottini, Gian Luigi³, Calcagno, Enrico⁴, Piazzi, Attilia¹

Publikováno v: Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale. 2018, Vol. 91 Issue 1, p56-61. 6p.

Enhanced biofilm-production in pathogens isolated from patients with rare metabolic disorders

Autor: Debbia, Eugenio, Dolcino, M., Marchese, Anna, Piazzi, A., Berio, Agostino, Dolcino, Marzia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::44a746697f0760faa97f94b4a5683b7c
http://hdl.handle.net/11567/248965

Clinical picture of multiple anomalies in a 49,XXXXY patient

Autor: Berio, Agostino, Bonioli, Eugenio, DI STEFANO, Antonio, Olivo, F., Vianello, MARIA GRAZIA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::4460e5df854d68710515f39804b80d9d
http://hdl.handle.net/11567/382522

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

Autor: Berio A; Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa. agostinoberio@ospedale-gaslini.ge.it., Piazzi A, Traverso CE

Publikováno v: La Pediatria medica e chirurgica : Medical and surgical pediatrics [Pediatr Med Chir] 2017 Dec 15; Vol. 39 (4), pp. 169. Date of Electronic Publication: 2017 Dec 15.