Kiper POS - Search Results

1

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability.

Çınar HÜ, Kızılkan MP, Akalın A, Kiper PÖŞ, Utine GE, Derman O, Kanbur N, Akgül S. Çınar HÜ, et al. Among authors: kiper pos. J Pediatr Adolesc Gynecol. 2023 Aug;36(4):363-371. doi: 10.1016/j.jpag.2023.02.005. Epub 2023 Mar 6. J Pediatr Adolesc Gynecol. 2023. PMID: 36889454

2

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.

Şahin EA, Taşkıran EZ, Kiper PÖŞ, Aydın B, Utine E. Şahin EA, et al. Among authors: kiper pos. J Med Case Rep. 2022 Jul 28;16(1):306. doi: 10.1186/s13256-022-03524-2. J Med Case Rep. 2022. PMID: 35902966 Free PMC article.

3

Recurrent fractures and an unusual diagnosis: Pycnodysostosis.

Gurbanov A, Kiper PÖŞ, Tekşam Ö. Gurbanov A, et al. Among authors: kiper pos. J Natl Med Assoc. 2022 Jun;114(3):295-297. doi: 10.1016/j.jnma.2022.02.008. Epub 2022 Mar 8. J Natl Med Assoc. 2022. PMID: 35272848 No abstract available.

4

Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.

Oğuz S, Arslan UE, Kiper PÖŞ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Oğuz S, et al. Among authors: kiper pos. J Intellect Disabil Res. 2021 Dec;65(12):1033-1048. doi: 10.1111/jir.12892. Epub 2021 Oct 18. J Intellect Disabil Res. 2021. PMID: 34661940

5

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Güleray N, Koşukcu C, Oğuz S, Ürel Demir G, Taşkıran EZ, Kiper PÖŞ, Utine GE, Alanay Y, Boduroğlu K, Alikaşifoğlu M. Güleray N, et al. Among authors: kiper pos. Cleft Palate Craniofac J. 2022 Sep;59(9):1114-1124. doi: 10.1177/10556656211038115. Epub 2021 Aug 19. Cleft Palate Craniofac J. 2022. PMID: 34410171

6

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Soyer T, Karaosmanoglu B, Taskiran EZ, Kiper PÖŞ, Karnak İ, Boduroğlu K, Utine GE. Soyer T, et al. Among authors: kiper pos. Am J Med Genet A. 2021 Nov;185(11):3427-3432. doi: 10.1002/ajmg.a.62462. Epub 2021 Aug 17. Am J Med Genet A. 2021. PMID: 34403180

7

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: kiper pos. 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

8

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Taskiran EZ, Sonmez HE, Kosukcu C, Tavukcuoglu E, Yazici G, Esendagli G, Batu ED, Kiper POS, Bilginer Y, Alikasifoglu M, Ozen S. Taskiran EZ, et al. Among authors: kiper pos. J Clin Immunol. 2019 Jan;39(1):99-105. doi: 10.1007/s10875-018-0587-7. Epub 2019 Jan 8. J Clin Immunol. 2019. PMID: 30617623

9

HERC1 mutations in idiopathic intellectual disability.

Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226

10

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafé L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Kiper POS, et al. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342. N Engl J Med. 2016. PMID: 27355534 Free PMC article.

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