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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, Evans CA, Zhu Y, Zhang F, Field M, Ma A, Adès L, Josephi-Taylor S, Pfundt R, Zaki MS, Tomoum H, Gregor A, Laube J, Reis A, Maddirevula S, Hashem MO, Zweier M, Alkuraya FS, Maroofian R, Buckley MF, Gleeson JG, Zweier C, Coll-Tané M, Koolen DA, Rauch A, Roscioli T, Schenck A, Harvey RJ. De Hayr L, et al. Among authors: dias kr. Genet Med. 2025 Jan;27(1):101253. doi: 10.1016/j.gim.2024.101253. Epub 2024 Dec 5. Genet Med. 2025. PMID: 39636576 Free article.
RAP1-GTPase immunostaining is altered in human precancerous and cancerous cervical lesions.
de Vasconcelos PC, Freitas TR, de Araújo Lopes LV, Peixoto LR, Xavier MP, Cançado Figueiredo AC, Dias KL, de Oliveira JG, de Oliveira Salles PG, Vago AR, de Paula Sabino A, de Lima Rocha MG. de Vasconcelos PC, et al. Among authors: dias kl. Biomark Med. 2024;18(17-18):771-785. doi: 10.1080/17520363.2024.2394384. Epub 2024 Sep 10. Biomark Med. 2024. PMID: 39254347
269 results