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A newborn with overlapping features of AEC and EEC syndromes.
Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Celik TH, et al. Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065614
Café noir spots: a feature of familial progressive hyper- and hypopigmentation.
Gülseren D, Güleray N, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine EG, Alikaşifoğlu M, Ersoy-Evans S. Gülseren D, et al. J Eur Acad Dermatol Venereol. 2020 Feb;34(2):e76-e77. doi: 10.1111/jdv.15968. Epub 2019 Oct 24. J Eur Acad Dermatol Venereol. 2020. PMID: 31571311 No abstract available.
The effect of parental age on NF1 patients in Turkey.
Sharafi P, Anlar B, Ersoy-Evans S, Varan A, Yılmaz OF, Turan M, Ayter S. Sharafi P, et al. J Community Genet. 2018 Jul;9(3):227-232. doi: 10.1007/s12687-017-0346-0. Epub 2017 Nov 15. J Community Genet. 2018. PMID: 29143198 Free PMC article.
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC. Sanal O, et al. J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4. J Clin Immunol. 2012. PMID: 22476911 Free PMC article.
72 results