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Page 1
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA. Cetinkaya A, et al. Among authors: gormez z. Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476657 Free PMC article.
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. Ozkinay F, et al. Among authors: gormez z. Am J Med Genet A. 2017 Jun;173(6):1668-1672. doi: 10.1002/ajmg.a.38173. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407396
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G, Toptaş-Hekimoğlu B, Görmez Z, Gelişin Ö, Durmuş H, Ergüner B, Demirci H, Sağıroğlu MŞ, Parman Y, Deymeer F, Yılmaz-Aydoğan H, Pençe S, Bekircan-Kurt CE, Tan E, Erdem-Özdamar S, Üstek D, Giger U, Öztürk O, Serdaroğlu-Oflazer P. Inal-Gültekin G, et al. Among authors: gormez z. Neuromuscul Disord. 2017 Nov;27(11):997-1008. doi: 10.1016/j.nmd.2017.06.004. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28967462 Free PMC article.
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Akçakaya NH, Salman B, Görmez Z, Tarkan Argüden Y, Çırakoğlu A, Çakmur R, Dönmez Çolakoğlu B, Hacıhanefioğlu S, Özbek U, Yapıcı Z, Uğur İşeri SA. Akçakaya NH, et al. Among authors: gormez z. Neuromolecular Med. 2019 Mar;21(1):54-59. doi: 10.1007/s12017-018-08522-6. Epub 2019 Jan 5. Neuromolecular Med. 2019. PMID: 30612247
16 results