1. Açık Erişim@BUU

Browsing by Author Maher, Eamonn R.

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Issue DateTitleAuthor(s)
2016-08-09Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situNicholas, Adeline K.; Serra, Eva G.; Cangül, Hakan; Alyaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi M.; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; Bober, Ece; Dattani, Mehul; Shenoy, Savitha; Murray, Philip G.; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin H.; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed F.; Gregory, John W.; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn R.; Chatterjee, V. Krishna K.; Anderson, Carl A.; Schoenmakers, Nadia; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0003-0710-5422; Sağlam, Halil; C-7392-2019; 35612700100
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
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 3 of 3