Pelin Özlem Şimşek Kiper

Pelin Özlem Şimşek Kiper

Hacettepe University - Ankara / Türkiye
Medical and Health Sciences / Pediatric Gastroenterology
AD Scientific Index ID: 84291
Hacettepe Üniversitesi
person_outline Pelin Özlem Şimşek Kiper's MOST POPULAR ARTICLES
1-) A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingD Wieczorek, N Boegershausen, F Beleggia, S Steiner-Haldenstaett, ...Human molecular genetics 22 (25), 5121-5135, 20132412013
2-) Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasC Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...The American Journal of Human Genetics 89 (1), 7-14, 20112402011
3-) Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ...Human mutation 37 (9), 847-864, 20161302016
4-) A mutation screen in patients with Kabuki syndromeY Li, N Bögershausen, Y Alanay, PÖ Simsek Kiper, N Plume, K Keupp, ...Human genetics 130, 715-724, 20111422011
5-) Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s diseasePO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ...New England Journal of Medicine 374 (26), 2553-2562, 20161402016