Osman Koray Boduroğlu

Osman Koray Boduroğlu

Hacettepe University - Ankara / Türkiye
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 83661
Hacettepe Üniversitesi
person_outline Osman Koray Boduroğlu's MOST POPULAR ARTICLES
1-) Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaY Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...The American Journal of Human Genetics 86 (4), 551-559, 20103302010
2-) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesA Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ...Nature genetics 43 (6), 601-606, 20112302011
3-) 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, 20131962013
4-) 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, 20161892016
5-) Neural tube defects in Turkey: prevalence, distribution and risk factors.E Tuncbilek, K Boduroğlu, M AlikaşifoğluThe Turkish journal of pediatrics 41 (3), 299-305, 19991481999