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Page 1
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. 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
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: sagiroglu ms. 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.
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: sagiroglu ms. Gene. 2015 Jun 1;563(2):215-8. doi: 10.1016/j.gene.2015.03.060. Epub 2015 Mar 30. Gene. 2015. PMID: 25834954
Robustness of Massively Parallel Sequencing Platforms.
Kavak P, Yüksel B, Aksu S, Kulekci MO, Güngör T, Hach F, Şahinalp SC; Turkish Human Genome Project; Alkan C, Sağıroğlu MŞ. Kavak P, et al. Among authors: sagiroglu ms. PLoS One. 2015 Sep 18;10(9):e0138259. doi: 10.1371/journal.pone.0138259. eCollection 2015. PLoS One. 2015. PMID: 26382624 Free PMC article.
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
Bayrakli F, Poyrazoglu HG, Yuksel S, Yakicier C, Erguner B, Sagiroglu MS, Yuceturk B, Ozer B, Doganay S, Tanrikulu B, Seker A, Akbulut F, Ozen A, Per H, Kumandas S, Altuner Torun Y, Bayri Y, Sakar M, Dagcinar A, Ziyal I. Bayrakli F, et al. Among authors: sagiroglu ms. J Hum Genet. 2015 Dec;60(12):763-8. doi: 10.1038/jhg.2015.109. Epub 2015 Oct 1. J Hum Genet. 2015. PMID: 26423925 Clinical Trial.
27 results