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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E, Simsek-Kiper PÖ, Koşukcu C, Taşkıran EZ, Göçmen R, Utine E, Haliloğlu G, Boduroğlu K, Alikaşifoğlu M. Kındış E, et al. Among authors: haliloglu g. Am J Med Genet A. 2021 Jun;185(6):1888-1896. doi: 10.1002/ajmg.a.62179. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33749994
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Utine GE, Haliloğlu G, Volkan-Salancı B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: haliloglu g. Eur J Paediatr Neurol. 2014 May;18(3):327-37. doi: 10.1016/j.ejpn.2014.01.004. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24508361
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: haliloglu g. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
122 results