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Year Number of Results
2005 1
2006 1
2007 1
2008 4
2009 5
2010 3
2011 1
2012 4
2013 3
2014 3
2015 5
2016 7
2017 8
2018 9
2019 8
2020 4
2021 10
2022 9
2023 3
2024 2

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Page 1
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: ziccardi l. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia.
Ziccardi L, Barbano L, Antonelli G, Cioffi E, Di Renzo A, Gioiosa V, Marcotulli C, Grzybowski A, Casali C, Parisi V. Ziccardi L, et al. Diagnostics (Basel). 2022 Dec 12;12(12):3135. doi: 10.3390/diagnostics12123135. Diagnostics (Basel). 2022. PMID: 36553143 Free PMC article.
Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up.
Parravano M, Costanzo E, Barbano L, Viggiano P, De Geronimo D, Antonelli G, Parisi V, Varano M, Ziccardi L. Parravano M, et al. Among authors: ziccardi l. Diagnostics (Basel). 2022 Nov 28;12(12):2977. doi: 10.3390/diagnostics12122977. Diagnostics (Basel). 2022. PMID: 36552982 Free PMC article.
Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.
Antonelli G, Parravano M, Barbano L, Costanzo E, Bertelli M, Medori MC, Parisi V, Ziccardi L. Antonelli G, et al. Among authors: ziccardi l. Diagnostics (Basel). 2022 Jul 31;12(8):1851. doi: 10.3390/diagnostics12081851. Diagnostics (Basel). 2022. PMID: 36010202 Free PMC article.
84 results