Kết quả tìm kiếm - Hakan Cangül
- Đang hiển thị 1 - 8 kết quả của 8
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Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease Bằng 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
Được phát hành 2010Artigo -
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Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization Bằng 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
Được phát hành 2010Artigo -
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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome Bằng 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
Được phát hành 2012Artigo -
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron Bằng 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
Được phát hành 2006Artigo -
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism Bằng 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
Được phát hành 2018Artigo -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ Bằng 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
Được phát hành 2016Artigo
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Các môn học liên quan
Biology
Genetics
Gene
Medicine
Phenotype
Congenital hypothyroidism
Endocrinology
Internal medicine
Mutation
Thyroid
Cancer research
Cell biology
Chemistry
Compound heterozygosity
Disease
Immunology
Organic chemistry
Pathology
Alternative medicine
Arc (geometry)
Arthrogryposis
Aura
Biochemistry
Cholestasis
Diiodotyrosine
Downregulation and upregulation
Enzyme
Etiology
Familial hemiplegic migraine
Gene expression