Publications

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2016
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
Lange L, Pagnamenta AT, Lise S, et al. "A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia." Clin. Genet.. 2016. Abstract
Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I. "Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited." Am. J. Med. Genet. A. 2016;170(5):1333-8. Abstract
Calvo Campoverde K, Gean E, Piquer Gibert M, et al. "Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract