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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. Among authors: utine ge. 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
Clinical and molecular evaluation of 16 patients with Rett syndrome.
Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Zengin-Akkuş P, et al. Among authors: utine ge. Turk J Pediatr. 2018;60(1):1-9. doi: 10.24953/turkjped.2018.01.001. Turk J Pediatr. 2018. PMID: 30102473 Free article.
Zengin-Akkus P, Taskiran EZ, Kabacam S, Simsek-Kiper PO, Haliloglu G, Boduroglu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. ...
Zengin-Akkus P, Taskiran EZ, Kabacam S, Simsek-Kiper PO, Haliloglu G, Boduroglu K, Utine GE. Clinical and molecular evaluation …
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE. Bilgin B, et al. Among authors: utine ge. Turk J Pediatr. 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. Turk J Pediatr. 2018. PMID: 30968633 Free article.
Bilgin B, Kabacam S, Taskiran E, Simsek-Kiper PO, Alanay Y, Boduroglu K, Utine GE. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome. ...
Bilgin B, Kabacam S, Taskiran E, Simsek-Kiper PO, Alanay Y, Boduroglu K, Utine GE. Epigenotype and phenotype correlations in p …
Genetic IGF1R defects: new cases expand the spectrum of clinical features.
Gonc EN, Ozon ZA, Oguz S, Kabacam S, Taskiran EZ, Kiper POS, Utine GE, Alikasifoglu A, Kandemir N, Boduroglu OK, Alikasifoglu M. Gonc EN, et al. Among authors: utine ge. J Endocrinol Invest. 2020 Dec;43(12):1739-1748. doi: 10.1007/s40618-020-01264-y. Epub 2020 Apr 30. J Endocrinol Invest. 2020. PMID: 32356191
The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
Kolkıran A, Karaosmanoğlu B, Taşkıran ZE, Şimşek-Kiper PÖ, Utine GE. Kolkıran A, et al. Among authors: utine ge. Turk J Pediatr. 2021;63(6):1091-1096. doi: 10.24953/turkjped.2021.06.019. Turk J Pediatr. 2021. PMID: 35023661 Free article.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: utine ge. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Ozon ZA, Alikasifoglu A, Kandemir N, Aydin B, Gonc EN, Karaosmanoglu B, Celik NB, Eroglu-Ertugrul NG, Taskiran EZ, Haliloglu G, Oguz KK, Kiper PO, Yalnizoglu D, Utine GE, Alikasifoglu M. Ozon ZA, et al. Among authors: utine ge. Pediatr Diabetes. 2020 Nov;21(7):1176-1182. doi: 10.1111/pedi.13098. Epub 2020 Sep 10. Pediatr Diabetes. 2020. PMID: 32738013
135 results