Søgeresultater - Umut Altunoğlu

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  1. 1
    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome

    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome af Gökhan Yigit, Karen E. Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoğlu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian T. Thiel, Bernd Wollnik

    Udgivet 2015
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  2. 2
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome af Tahir Atık, Asuman Koparır, Güney Bademci, Joseph Foster, Umut Altunoğlu, Gül Yeşiltepe Mutlu, Sarah Bowdin, Nursel Elçioğlu, Gulsen Akay Tayfun, Sevinç Şahin Atik, Mustafa Özen, Ferda Özkınay, Yasemin Alanay, Hülya Kayserili, Steffen Thiel, Mustafa Tekin

    Udgivet 2015
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  3. 3
    IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts

    IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts af Eleonora Adami, Sivakumar Viswanathan, Anissa A. Widjaja, Benjamin Ng, Sonia Chothani, Nevin Zhihao, Jessie Tan, Pei Min Lio, Benjamin L. George, Umut Altunoğlu, Kakaly Ghosh, Bhairav Paleja, Sebastian Schäfer, Bruno Reversade, Salvatore Albani, Andrea Ling, Steven O’Reilly, Stuart A. Cook

    Udgivet 2021
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  4. 4
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome af Machteld M. Oud, Carine Bonnard, Dorus A. Mans, Umut Altunoğlu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C. Anthony Rupar, Nathalie P. de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J. Pazour, Stanley F. Nelson, Robert A. Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria Mok Siu, Bruno Reversade, Heleen H. Arts

    Udgivet 2016
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  5. 5
    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey af Barış Akıncı, Hüseyin Önay, Tevfik Demir, Samim Özen, Hülya Kayserili, Gülçin Akıncı, Banu Nur, Beyhan Tüysüz, Mehmet Nuri Özbek, Âdem Güngör, İlgın Yıldırım Şimşir, Canan Altay, Leyla Demir, Enver Şimşek, Murat Atmaca, Haluk Topaloğlu, Habib Bilen, Hulusi Atmaca, Tahir Atık, Ümit Çavdar, Umut Altunoğlu, Ayça Dilruba Aslanger, Ercan Mıhçı, Mustafa Seçil, Füsun Saygılı, Abdurrahman Çömlekçi, Abhimanyu Garg

    Udgivet 2016
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  6. 6
    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes

    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes af Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D’Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

    Udgivet 2016
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  7. 7
    De novo mutations in PLXND1 and REV3L cause Möbius syndrome

    De novo mutations in PLXND1 and REV3L cause Möbius syndrome af Laura Tomás‐Roca, Anastasia Tsaalbi‐Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoğlu, H. T. F. M. Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P.M. de Brouwer, Corrie E. Erasmus, Dirk Schubert, Han G. Brunner, Antonio Pérez Aytés, Faustino Marı́n, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W. Padberg, Hans van Bokhoven

    Udgivet 2015
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  8. 8
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility af Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M. Barnes, Magdalena Steiner, Oliver Semler, Björn Fischer‐Zirnsak, Gökhan Yigit, Claudia Y. Janda, Jutta Becker, Stefan Breer, Umut Altunoğlu, Johannes Grünhagen, Peter Krawitz, Jochen Hecht, Thorsten Schinke, Elena Makareeva, Ekkehart Lausch, Tufan Çankaya, José A. Caparrós‐Martín, Pablo Lapunzina, Samia A. Temtamy, Mona Aglan, Bernhard Zabel, Peer Eysel, Friederike Koerber, Sergey Leikin, K. Christopher García, Christian Netzer, Eckhard Schönaü, Víctor L. Ruiz‐Pérez, Stefan Mundlos, Michael Amling, Uwe Kornak, Joan C. Marini, Bernd Wollnik

    Udgivet 2013
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  9. 9
    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration af Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson

    Udgivet 2014
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  10. 10
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 af Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    Udgivet 2016
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  11. 11
    Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

    Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan af Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers, Margit Schraders, Umut Altunoğlu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M.S. Mancini, P. Delrée, Michèl A.A.P. Willemsen, Danijela Petković Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, E Peeters, Gita Tan-Sindhunata, C E de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung‐Yao Lin, Hans van Bokhoven

    Udgivet 2012
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  12. 12
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies af Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    Udgivet 2017
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  13. 13
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing af Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    Udgivet 2017
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