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Kabuki syndrome and trisomy 10p.
Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Utine GE, et al. Among authors: alikasifoglu m. Genet Couns. 2008;19(3):291-300. Genet Couns. 2008. PMID: 18990985
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: alikasifoglu m. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Aktas D, et al. Among authors: alikasifoglu m. Mol Cytogenet. 2010 May 28;3(1):10. doi: 10.1186/1755-8166-3-10. Mol Cytogenet. 2010. PMID: 20509907 Free PMC article.
157 results