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EYS-Associated Sector Retinitis Pigmentosa.
Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1405-1413. doi: 10.1007/s00417-021-05411-w. Epub 2021 Sep 27.
Graefes Arch Clin Exp Ophthalmol. 2022.
PMID: 34568954
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simões RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R.
Bertrand RE, et al. Among authors: sampaio sam.
Genet Med. 2021 Mar;23(3):488-497. doi: 10.1038/s41436-020-01003-x. Epub 2020 Oct 20.
Genet Med. 2021.
PMID: 33077892
Free PMC article.
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Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO, Jones EM, Branch J, Soens ZT, Maia IM, Sena IFG, Sampaio SAM, Simões RT, Chen R.
Porto FBO, et al. Among authors: sampaio sam.
Genes (Basel). 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355.
Genes (Basel). 2017.
PMID: 29186038
Free PMC article.
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