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Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Among authors: saraeva lamri r. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis.
Doreille A, Raymond L, Lebre AS, Linster C, Saraeva Lamri R, Karras A, Khayat R, Michel PA, Buob D, Luque Y, Rafat C, Mesnard L. Doreille A, et al. Among authors: saraeva lamri r. Clin J Am Soc Nephrol. 2021 Apr 7;16(4):615-617. doi: 10.2215/CJN.11890720. Epub 2020 Dec 2. Clin J Am Soc Nephrol. 2021. PMID: 33268504 Free PMC article. No abstract available.