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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: utine e. 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.
A multidisciplinary approach to the management of individuals with fragile X syndrome.
Alanay Y, Unal F, Turanli G, Alikaşifoğlu M, Alehan D, Akyol U, Belgin E, Sener C, Aktaş D, Boduroğlu K, Utine E, Volkan-Salanci B, Ozusta S, Genç A, Başar F, Sevinç S, Tunçbilek E. Alanay Y, et al. Among authors: utine e. J Intellect Disabil Res. 2007 Feb;51(Pt 2):151-61. doi: 10.1111/j.1365-2788.2006.00942.x. J Intellect Disabil Res. 2007. PMID: 17217479
Cerebro-facio-thoracic dysplasia: expanding the phenotype.
Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J. Cilliers D, et al. Among authors: utine e. Clin Dysmorphol. 2007 Apr;16(2):121-125. doi: 10.1097/MCD.0b013e328012e292. Clin Dysmorphol. 2007. PMID: 17351359
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: utine eg. Mol Cytogenet. 2010 May 28;3(1):10. doi: 10.1186/1755-8166-3-10. Mol Cytogenet. 2010. PMID: 20509907 Free PMC article.
35 results