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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. Among authors: gunes n. J Med Genet. 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546. J Med Genet. 2024. PMID: 38531627 Free article.
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO. Berkay EG, et al. Among authors: gunes n. Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13. Am J Med Genet A. 2021. PMID: 33987976
Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: gunes n. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
Toksoy G, Uludağ Alkaya D, Bagirova G, Avcı Ş, Aghayev A, Günes N, Altunoğlu U, Alanay Y, Başaran S, Berkay EG, Karaman B, Celkan TT, Apak H, Kayserili H, Tüysüz B, Uyguner ZO. Toksoy G, et al. Among authors: gunes n. Mol Syndromol. 2020 Nov;11(4):183-196. doi: 10.1159/000509838. Epub 2020 Sep 23. Mol Syndromol. 2020. PMID: 33224012 Free PMC article.
77 results