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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: yuksel b. 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.
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. Öncü-Öner T, et al. Among authors: yuksel b. Turk J Pediatr. 2018;60(3):229-237. doi: 10.24953/turkjped.2018.03.001. Turk J Pediatr. 2018. PMID: 30511534 Free article.
Oncu-Oner T, Unalp A, Porsuk-Doru I, Agilkaya S, Guleryuz H, Sarac A, Erguner B, Yuksel B, Hiz-Kurul S, Cingoz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. ...
Oncu-Oner T, Unalp A, Porsuk-Doru I, Agilkaya S, Guleryuz H, Sarac A, Erguner B, Yuksel B, Hiz-Kurul S, Cingoz S. GPR56 …
385 results