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Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K. Salzer E, et al. Among authors: demir am. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17. J Allergy Clin Immunol. 2014. PMID: 24746753
The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.
Kansu A, Kuloglu Z, Tümgör G, Taşkın DG, Dalgıç B, Çaltepe G, Demirören K, Doğan G, Tuna Kırsaçlıoğlu C, Arslan D, Işık İA, Demir H, Bekem Ö, Şahin Y, Bayrak NA, Selimoğlu MA, Yavuz S, Taşkaya İE, Altay D; VICTORIA Study Group. Kansu A, et al. Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023. Front Pediatr. 2023. PMID: 37818166 Free PMC article.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. Among authors: demir am. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
73 results