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Page 1
Inherited macular dystrophies and differential diagnostics.
Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Zaliūnienė D, Jašinskas V. Liutkevičienė R, et al. Among authors: gelzinis a. Medicina (Kaunas). 2012;48(9):485-95. Medicina (Kaunas). 2012. PMID: 23168924 Free article. Review.
A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.
Liutkeviciene R, Sidaraite A, Kuliaviene L, Glebauskiene B, Jurkute N, Aluzaite-Baranauskiene L, Gelzinis A, Zemaitiene R. Liutkeviciene R, et al. Among authors: gelzinis a. Medicina (Kaunas). 2021 Feb 26;57(3):202. doi: 10.3390/medicina57030202. Medicina (Kaunas). 2021. PMID: 33652663 Free PMC article. Review.
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.