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405 results

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Page 1
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: yuksel b. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
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 …
Whole-exome sequencing revealed two novel mutations in Usher syndrome.
Koparir A, Karatas OF, Atayoglu AT, Yuksel B, Sagiroglu MS, Seven M, Ulucan H, Yuksel A, Ozen M. Koparir A, et al. Among authors: yuksel b, yuksel a. Gene. 2015 Jun 1;563(2):215-8. doi: 10.1016/j.gene.2015.03.060. Epub 2015 Mar 30. Gene. 2015. PMID: 25834954
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Koparir A, Karatas OF, Yuceturk B, Yuksel B, Bayrak AO, Gerdan OF, Sagiroglu MS, Gezdirici A, Kirimtay K, Selcuk E, Karabay A, Creighton CJ, Yuksel A, Ozen M. Koparir A, et al. Among authors: yuksel b, yuksel a. Hum Mol Genet. 2015 Oct 1;24(19):5378-87. doi: 10.1093/hmg/ddv261. Epub 2015 Jul 10. Hum Mol Genet. 2015. PMID: 26162852 Review.
405 results