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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: avci s. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO. Senturk L, et al. Among authors: avci s. Fetal Diagn Ther. 2024 Feb 12. doi: 10.1159/000536324. Online ahead of print. Fetal Diagn Ther. 2024. PMID: 38346409
Comparison of incidental parathyroid tissue detection rates on pathology after total thyroidectomy performed with or without near-infrared autofluorescence imaging.
Romero-Velez G, Avci SN, Isiktas G, Ergun O, Akgun E, Muraveika L, Jin J, Heiden K, Krishnamurthy VD, Shin J, Siperstein A, Berber E. Romero-Velez G, et al. Among authors: avci sn. Surgery. 2024 Jan;175(1):128-133. doi: 10.1016/j.surg.2023.05.047. Epub 2023 Oct 20. Surgery. 2024. PMID: 37867101
165 results