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Page 1
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Chang YH, Kang EY, Liu PK, Levi SR, Wang HH, Tseng YJ, Seo GH, Lee H, Yeh LK, Chen KJ, Wu WC, Lai CC, Liu L, Wang NK. Chang YH, et al. Among authors: seo gh. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):5. doi: 10.1167/iovs.63.5.5. Invest Ophthalmol Vis Sci. 2022. PMID: 35506936 Free PMC article.
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Among authors: seo gh. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S. Brankovic M, et al. Neurogenetics. 2024 Jul;25(3):165-177. doi: 10.1007/s10048-024-00755-x. Epub 2024 Mar 19. Neurogenetics. 2024. PMID: 38499745
145 results