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31 results

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Page 1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: kjellstrom u. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W, Nilsson C, Kjellström U, Sandeman K, Puschmann A. Almasoudi W, et al. Among authors: kjellstrom u. Clin Park Relat Disord. 2023 Feb 22;8:100189. doi: 10.1016/j.prdoa.2023.100189. eCollection 2023. Clin Park Relat Disord. 2023. PMID: 36879630 Free PMC article.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: kjellstrom u. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Schroeder M, Peter VG, Gränse L, Andréasson S, Rivolta C, Kjellström U. Schroeder M, et al. Among authors: kjellstrom u. Ophthalmic Genet. 2022 Aug;43(4):500-507. doi: 10.1080/13816810.2022.2068041. Epub 2022 Apr 27. Ophthalmic Genet. 2022. PMID: 35477418
31 results