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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Doherty D, et al. Among authors: demir h. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.
The presentation of celiac disease in 220 Turkish children.
Balamtekin N, Uslu N, Baysoy G, Usta Y, Demir H, Saltik-Temizel IN, Ozen H, Gürakan F, Yüce A. Balamtekin N, et al. Among authors: demir h. Turk J Pediatr. 2010 May-Jun;52(3):239-44. Turk J Pediatr. 2010. PMID: 20718180
A very rare cause of protein losing enteropathy: Gaucher disease.
Göktaş MA, Gümüş E, Demir H, Gülşen HH, Saltık-Temizel İN, Özen H, Güçer Ş, Yüce A. Göktaş MA, et al. Among authors: demir h. Turk J Pediatr. 2021;63(4):708-715. doi: 10.24953/turkjped.2021.04.020. Turk J Pediatr. 2021. PMID: 34449155 Free article.
Cirrhosis in children with celiac disease.
Demir H, Yüce A, Caglar M, Kale G, Kocak N, Ozen H, Gürakan F, Saltik-Temizel IN. Demir H, et al. J Clin Gastroenterol. 2005 Aug;39(7):630-3. doi: 10.1097/01.mcg.0000170734.49725.53. J Clin Gastroenterol. 2005. PMID: 16000933
Bone mineral density in children with cirrhosis.
Uslu N, Saltik-Temizel IN, Demir H, Usta Y, Ozen H, Gürakan F, Yüce A, Koçak N. Uslu N, et al. Among authors: demir h. J Gastroenterol. 2006 Sep;41(9):873-7. doi: 10.1007/s00535-006-1864-4. J Gastroenterol. 2006. PMID: 17048051
782 results