1. Açık Erişim@BUU

Browsing by Author Gissen, Paul

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Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)
2006-09The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain ironMorgan, Neil; Westaway, Shawn K.; Morton, Jenny; Gregory, Allison; Gissen, Paul; Sonek, S.; Coryell, Jessi L.; Canham, N.; Nardocci, Nardo; Zorzi, Giovanna; Pasha, Shanaz; Rodriguez, D.; Desguerre, Isabelle; Mubaidin, A.; Bertini, Enrico; Trembath, Richard C.; Simonati, A.; Schanen, Carolyn; Johnson, Colin A.; Levinson, B.; Woods, Christopherg; Wilmot, Brett; Kramer, P.; Gitschier, J.; Hayflick, Susan J.; Maher, E. R.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Cangül, H.
2009-02Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.Cullinane, Andrew R.; Straatman, Anna Iwanowska; Seo, Jeong K.; Ko, Jae S.; Song, Kyung S.; Gizewska, Maria; Gruszfeld, Dariusz; Gliwicz, Dorota; Tüysüz, Beyhan; Sougrat, Rachid; Wakabayashi, Yoshiyuki; Hinds, Rupert; Barnicoat, Angela; Mandel, Hanna; Chitayat, David; Fischler, Bjorn; Garcia, Angels Cazorla; Knisely, A. S.; Kelly, Deirdre A.; Maher, Eamonn R.; Gissen, Paul; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı.; 0000-0002-9726-8219; Erdemir, Gülin; 36015044400
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
2006PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain ironMorgan, Neil V.; Westaway, Shawn K; Morton, Jenny E. V.; Gregory, Allison; Gissen, Paul; Sonek, Scott; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Giovanna, Giovanna; Shanaz, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertin, Enrico; Trembath, Richard C.; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin A.; Levinson, Barbara; Woods, C. Geoffrey; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn R.; Hayflick, Susan J.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Cangül, Hakan; 8911611600
Showing results 1 to 5 of 5