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A rare case of an NLRP12-associated autoinflammatory disease.
Ayla AY, Eren H, Zare J, Calhan SS, Karacan I, Seven M, Ugurlu S. Ayla AY, et al. Among authors: seven m. Eur J Med Genet. 2021 Apr;64(4):104168. doi: 10.1016/j.ejmg.2021.104168. Epub 2021 Mar 3. Eur J Med Genet. 2021. PMID: 33676062
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Abbott M, et al. Among authors: seven m. Am J Med Genet A. 2017 Oct;173(10):2789-2794. doi: 10.1002/ajmg.a.38383. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815944 Free PMC article.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. White JJ, et al. Among authors: seven m. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276006 Free PMC article.
Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
Kalayci Yigin A, Duz MB, Seven M. Kalayci Yigin A, et al. Among authors: seven m. Glob Med Genet. 2021 Oct 22;9(1):23-28. doi: 10.1055/s-0041-1736482. eCollection 2022 Mar. Glob Med Genet. 2021. PMID: 35169780 Free PMC article.
Anophthalmia-Waardenburg syndrome: a report of three cases.
Suyugül Z, Seven M, Hacihanefioğlu S, Kartal A, Suyugül N, Cenani A. Suyugül Z, et al. Among authors: seven m. Am J Med Genet. 1996 Apr 24;62(4):391-7. doi: 10.1002/(SICI)1096-8628(19960424)62:4<391::AID-AJMG12>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8723070
151 results