檢索結果 - Hakan Cangül

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  1. 1
    Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers

    Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers 由 Hakan Cangül

    出版 2004
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  2. 2
    Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

    Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism 由 Zehra Aycan, Hakan Cangül, Marina Muzza, Veysel Nijat Baş, Laura Fugazzola, Krishna Chatterjee, Luca Persani, Nadia Schoenmakers

    出版 2017
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  3. 3
    Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

    Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease 由 Neil V. Morgan, Mark R. Morris, Hakan Cangül, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas P. Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P.G. Vreeswijk, Peter Devilee, Margaret A. Knowles, Serdar Ceylaner, Richard C. Trembath, Carlos Dalence, Erol Kısmet, Vedat Köseoğlu, Hans‐Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R. Maher

    出版 2010
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    Artigo
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  4. 4
    Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

    Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization 由 Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Ütine, Tanju Özkan, Jonas Denecke, Jurica Vuković, Maja Di Rocco, Hanna Mandel, Hakan Cangül, Randolph P. Matthews, Steven G. Thomas, Joshua Z. Rappoport, Irwin M. Arias, Hartwig Wolburg, A. S. Knisely, Déirdre Kelly, Ferenc Müller, Eamonn R. Maher, Paul Gissen

    出版 2010
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  5. 5
    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome 由 Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K Bruce, Andrew R. Cullinane, René Romero, Richard Chang, O. Ackermann, Clarisse Baumann, Hakan Cangül, Fatma Çakmak Çelik, Canan Aygün, Richard J. Coward, Carlo Dionisi‐Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A. S. Knisely, Steve P. Watson, Paul Gissen

    出版 2012
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  6. 6
    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron 由 Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick

    出版 2006
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  7. 7
    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism 由 Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva Serra, Halil Sağlam, Erdal Eren, Ömer Tarım, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E. Karet, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E. D. Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

    出版 2018
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  8. 8
    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ 由 Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers

    出版 2016
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