Şimşek Kiper PÖ - Search Results

1

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Doğan ÖA, et al. Among authors: simsek kiper po. Korean J Fam Med. 2017 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102. Epub 2017 Mar 22. Korean J Fam Med. 2017. PMID: 28360987 Free PMC article.

2

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: simsek kiper po. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748

3

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: simsek kiper po. 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

4

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

5

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K. Şimşek-Kiper PÖ, et al. Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9. Clin Genet. 2013. PMID: 22420426

6

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p.

Dikmetas O, Simsek Kiper PO, Mocan MC, Utine EG, Boduroglu K, Irkec M. Dikmetas O, et al. Among authors: simsek kiper po. J AAPOS. 2012 Oct;16(5):473-5. doi: 10.1016/j.jaapos.2012.05.008. J AAPOS. 2012. PMID: 23084388

7

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G. Lorenz S, et al. Among authors: simsek kiper po. Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335589

8

Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.

Simsek-Kiper PO, Topaloglu R, Sahin Y, Utine GE, Boduroglu K. Simsek-Kiper PO, et al. Genet Couns. 2013;24(1):7-12. Genet Couns. 2013. PMID: 23610860

9

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Takcı S, Korkmaz A, Simşek-Kiper PO, Utine GE, Boduroğlu K, Yurdakök M. Takcı S, et al. Among authors: simsek kiper po. Turk J Pediatr. 2012 Jul-Aug;54(4):440-3. Turk J Pediatr. 2012. PMID: 23692731

10

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Iida A, et al. Among authors: simsek kiper po. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. Hum Mutat. 2013. PMID: 23824674

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