1. Açık Erişim@BUU

Browsing by Author Mäher, Eamonn Richard

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Issue DateTitleAuthor(s)
2010-02Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseMorgan, Neil V.; Morris, Mark R.; Gleeson, Diane; Straatman-Iwanowska, Anna A.; Davies, Nicholas James; Keenan, Stephen J.; Pasha, Shanaz S.; Rahman, Fatimah; Gentle, Dean C.; Vreeswijk, Maaike P.G.; Devilee, Peter; Knowles, Margaret A.; Ceylaner, Serdar; Trembath, Richard C.; Dalence, Carlos; Kısmet, Erol; Köseoğlu, Vedat; Rossbach, Hans Christoph; Gissen, Paul; Tannahill, David; Mäher, Eamonn Richard; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Cangül, Hakan; 8911611600
2010-04Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationCullilane, Andrew Robert; Straatman-Iwanowska, Anna A.; Zaucker, Andreas; Wakabayashi, Yoshiyuki; Bruce, Christopher K.; Luo, Guanmei; Rahman, Fatimah; Gürakan, Figen; Ütine, Gülen Eda; Denecke, Jonas; Vukovic, Jurica; Di Rocco, Maja; Mandel, Hanna; Matthews, Randolph P.; Thomas, Steven G.; Rappoport, Joshua Zachary; Arias, Irwin M.; Wolburg, Hartwig; Knisely, Alexander S.; Kelly, Deirdre Anne K.; Ferenc Müller, Ferenc; Mäher, Eamonn Richard; Gissen, Paul; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Özkan, Tanju Başarır; Cangül, Hakan; 35772174800; 8911611600
2010-11Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismMorgan, Neil V.; Forman, Julia R.; Aycan, Zehra; Böber, Ece; Cesur, Yaşar; Kirby, Gail A.; Pasha, Shanaz S.; Çetinkaya, Semra Çağlar; Baş, Veysel Nihat; Demir, Korcan; Yuca, Sevil Arı; Meyer, Esther; Högler, Wolfgang; Timothy Barrett, Timothy; Mäher, Eamonn Richard; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Halk Sağlığı Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-1684-1053; Cangül, Hakan; Sağlam, Halil; Yakut, Tahsin; Gülten, Tuna; Tarım, Ömer Faruk; Karkucak, Mutlu; Eren, Erdal; Kendall, Michaela; C-7392-2019; AAM-1734-2020; 8911611600; 35612700100; 6602802424; 6505944216; 6701427186; 35388323500; 36113153400; 8062516400
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