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Page 1
A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: utine ge. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748
Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?
Nayır Büyükşahin H, Emiralioğlu N, Yalçın E, Ozcan HN, Oğuz B, Utine GE, Kiper PÖ, Karaosmanoğlu B, Orhan D, Unal S, Güzelkaş İ, Alboğa D, Doğru D, Özçelik U, Kiper N. Nayır Büyükşahin H, et al. Among authors: utine ge. J Paediatr Child Health. 2024 Nov;60(11):754-756. doi: 10.1111/jpc.16666. Epub 2024 Sep 9. J Paediatr Child Health. 2024. PMID: 39248546 No abstract available.
Kabuki syndrome and trisomy 10p.
Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Utine GE, et al. Genet Couns. 2008;19(3):291-300. Genet Couns. 2008. PMID: 18990985
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: utine ge. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688
144 results