Rezultati pretrage - Gökhan Yigit

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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 od 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

    Izdano 2015
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  2. 2
    ALX4 dysfunction disrupts craniofacial and epidermal development

    ALX4 dysfunction disrupts craniofacial and epidermal development od Hülya Kayserili, Elif Uz, Carien M. Niessen, İbrahim Vargel, Yasemin Alanay, Gökhan Tunçbi̇lek, Gökhan Yigit, Zehra Oya Uyguner, Şükrü Candan, Hamza Okur, Serkan Kaygin, Sevim Balcı, Emin Mavili, Mehmet Alikaşifoĝlu, Ingo Haase, Bernd Wollnik, Nurten Akarsu

    Izdano 2009
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  3. 3
    Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies od Bodo B. Beck, Anne Baasner, Anja Buescher, Sandra Habbig, Nadine Reintjes, Markus J. Kemper, Przemysław Sikora, Christoph J. Mache, Martin Pöhl, Mirjam Stahl, Burkhard Toenshoff, Lars Pape, Henry Fehrenbach, Dorrit E. Jacob, Bernd Grohe, Matthias T. F. Wolf, Gudrun Nürnberg, Gökhan Yigit, Eduardo Salido, Bernd Höppe

    Izdano 2012
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  4. 4
    Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

    Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish od P. V. Asharani, Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Hölger Thiele, Gökhan Yigit, Esther Pohl, Jutta Becker, Peter Frommolt, C. Sonntag, Janine Altmüller, Katharina Zimmermann, Daniel S. Greenspan, Nurten Akarsu, Christian Netzer, Eckhard Schönaü, Radu Wirth, Matthias Hammerschmidt, Peter Nürnberg, Bernd Wollnik, Thomas J. Carney

    Izdano 2012
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  5. 5
    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling od Yun Li, Kathrin Laue, Samia A. Temtamy, Mona Aglan, Leman Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma Wakeling, Oliver Quarrell, Ingelore Baessmann, Matthew B. Lanktree, M. Yılmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloğlu, Matthias Hammerschmidt, Bernd Wollnik

    Izdano 2010
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  6. 6
    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly od Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq, Muhammad Jameel, Tahir Naeem Khan, Ambrin Fatima, Naveed Altaf Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Hölger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter Nürnberg, Angelika A. Noegel

    Izdano 2013
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  7. 7
    Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy

    Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy od Ulrich Hanses, Mandy Kleinsorge, Lennart Roos, Gökhan Yiğit, Yun Li, Boris Barbarics, Ibrahim El‐Battrawy, Huan Lan, Malte Tiburcy, Robin Hindmarsh, Christof Lenz, Gabriela Salinas, Sebastian Diecke, Christian Müller, Ibrahim M. Adham, Janine Altmüller, Peter Nürnberg, Thomas A. Paul, Wolfram‐Hubertus Zimmermann, Gerd Hasenfuß, Bernd Wollnik, Lukas Cyganek

    Izdano 2020
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  8. 8
    XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

    XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches od Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff, Marion Aubert‐Mucca, Éric Bieth, Ariane Schmetz, Harald E. Rieder, Bernd Wollnik, Silke Kaulfuß, Gökhan Yiğit, Colina McKeown, Thomas F. Savage, Meghan R. Mulligan, Louise S. Bicknell, Nicole Corsten‐Janssen, Patrick Edery, Gaëtan Lesca, Jean‐Pierre de Villartay, Audrey Putoux

    Izdano 2025
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  9. 9
    SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

    SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis od Nina Bögershausen, Büşranur Çavdarlı, Taylor Nagai, Miroslav P. Milev, Alexander Wolff, Mahsa Mehranfar, Julia Schmidt, Dharmendra Choudhary, Óscar Gutiérrez‐Gutiérrez, Lukas Cyganek, Djenann Saint‐Dic, Arne Zibat, Karl Köhrer, Tassilo Erik Wollenweber, Dagmar Wieczorek, Janine Altmüller, Tatiana Borodina, Dilek Kaçar, Göknur Haliloğlu, Yun Li, Christian Thiel, Michael Sacher, Ela W. Knapik, Gökhan Yigit, Bernd Wollnik

    Izdano 2025
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  10. 10
    Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis

    Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis od Katharina Keupp, Yun Li, İbrahim Vargel, Alexander Hoischen, Rebecca J. Richardson, Kornelia Neveling, Yasemin Alanay, Elif Uz, Nursel Elcioğlu, Martin Rachwalski, Soner Kamaci, Gökhan Tunçbi̇lek, Burcu Akin, Joachim Grötzinger, Ersoy Konaş, Emin Mavili, Gerhard Müller‐Newen, H. Collmann, Tony Roscioli, Michael F. Buckley, Gökhan Yigit, Christian Gilissen, Wolfram Kreß, Joris A. Veltman, Matthias Hammerschmidt, Nurten Akarsu, Bernd Wollnik

    Izdano 2013
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  11. 11
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome od Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Şimşek‐Kiper, Filippo Beleggia, E. Ferda Perçin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elçioğlu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, Aengus Stewart, Dian Donnai, Tim M. Strom, Koray Boduroğlu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik

    Izdano 2015
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  12. 12
    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome od Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik

    Izdano 2010
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  13. 13
    CEP152 is a genome maintenance protein disrupted in Seckel syndrome

    CEP152 is a genome maintenance protein disrupted in Seckel syndrome od Ersan Kalay, Gökhan Yigit, Yakup Aslan, Karen Brown, Esther Pohl, Louise S. Bicknell, Hülya Kayserili, Yun Li, Beyhan Tüysüz, Gudrun Nürnberg, Wieland Kieß, Manfred Koegl, Ingelore Baessmann, Celal Kurtuluş Buruk, Bayram Toraman, Saadettin Kayıpmaz, Sibel Kul, Mevlit Íkbal, Daniel J. Turner, Martin S. Taylor, Jan Aerts, Clare L. Scott, Karen Milstein, Hélène Dollfus, Dagmar Wieczorek, Han G. Brunner, Matthew E. Hurles, Andrew P. Jackson, Anita Rauch, Peter Nürnberg, Ahmet Karagüzel, Bernd Wollnik

    Izdano 2010
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  14. 14
    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction od Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra KAYA KILIÇ, Anna Floriane Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Hölger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer‐Zirnsak, Uwe Kornak

    Izdano 2017
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  15. 15
    Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity

    Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity od Claudia Koch, Andra Kuske, Simon A. Joosse, Gökhan Yigit, George Sflomos, Sonja Thaler, Daniel J. Smit, Stefan Werner, Kerstin Borgmann, Sebastian Gärtner, Parinaz Mossahebi Mohammadi, Laura Battista, Laure Cayrefourcq, Janine Altmüller, Gabriela Salinas-Riester, Kaamini Raithatha, Arne Zibat, Y. Goy, Leonie Ott, Kai Bartkowiak, Tuan Zea Tan, Qing Zhou, Michael R. Speicher, Volkmar Müller, Tobias M. Gorges, Manfred Jücker, Jean Paul Thiery, Cathrin Brisken, Sabine Riethdorf, Catherine Alix‐Panabières, Klaus Pantel

    Izdano 2020
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  16. 16
    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency od Jennie Murray, Louise S. Bicknell, Gökhan Yigit, Angela L. Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek, Hülya Kayserili, Michael H. Albert, Carol A. Wise, January Brandon, Tjitske Kleefstra, Adilia Warris, Michiel van der Flier, J. Steven Bamforth, Kurston Doonanco, Lesley C. Adès, Alan Ma, Michael Field, Diana Johnson, Fiona Shackley, Helen V. Firth, C. Geoffrey Woods, Peter Nürnberg, Richard A. Gatti, Matthew E. Hurles, Michael B. Bober, Bernd Wollnik, Andrew P. Jackson

    Izdano 2013
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  17. 17
    TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

    TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism od Margaret E Harley, Olga Murina, Andrea Leitch, Martin R. Higgs, Louise S. Bicknell, Gökhan Yigit, Andrew N. Blackford, Anastasia Zlatanou, Karen J. Mackenzie, Kaalak Reddy, Mihail Halachev, Sarah McGlasson, Martin A.M. Reijns, Adeline Fluteau, Carol-Anne Martin, Simone Sabbioneda, Nursel Elçioğlu, Janine Altmüller, Hölger Thiele, Lynn Greenhalgh, Luciana Chessa, Mohamad Maghnie, Mahmoud Salim, Michael B. Bober, Peter Nürnberg, Stephen P. Jackson, Matthew E. Hurles, Bernd Wollnik, Grant S. Stewart, Andrew P. Jackson

    Izdano 2015
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  18. 18
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility od 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

    Izdano 2013
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  19. 19
    Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and<i>MAGED2</i>Mutations

    Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and<i>MAGED2</i>Mutations od Kamel Laghmani, Bodo B. Beck, Sung-Sen Yang, Elie Seaayfan, Andrea Wenzel, Björn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, K. E. Bergmann, L. Duin, Heike Göbel, Christoph J. Mache, Hölger Thiele, Malte P. Bartram, Carlos Dombret, Janine Altmüller, Peter Nürnberg, Thomas Benzing, Elena Levtchenko, Hannsjörg W. Seyberth, Günter Klaus, Gökhan Yiğit, Shih‐Hua Lin, Albert Timmer, Tom J. de Koning, Sicco A. Scherjon, Karl P. Schlingmann, Mathieu J.M. Bertrand, Markus M. Rinschen, Olivier De Backer, Martin Konrad, Martin Kömhoff

    Izdano 2016
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  20. 20
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta od Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    Izdano 2019
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