نتائج البحث - Nursel Elçioğlu

تنقيح النتائج
  1. 1
    New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey حسب Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf, D. S. Parker, Frances Flinter

    منشور في 1999
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    Artigo
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  2. 2
    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 حسب Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, G. Eich, Céline Chambaz, Andreas Janecke, Heather N. Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

    منشور في 2008
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    Artigo
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  3. 3
    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay

    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay حسب Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elçioǧlu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O.M. Wilkie

    منشور في 2011
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    Artigo
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  4. 4
    Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

    Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci حسب Philip L. Beales, Nicholas Katsanis, Richard A. Lewis, Stephen J. Ansley, Nursel Elçioğlu, Jamal Raza, Michael O. Woods, Jane S. Green, Patrick S. Parfrey, William S. Davidson, James R. Lupski

    منشور في 2001
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    Artigo
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  5. 5
    Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

    Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease حسب C Martins, Paula Frassinetti Vasconcelos de Medeiros, Sandra Leistner‐Segal, Larbi Dridi, Nursel Elçioğlu, Jill Wood, Mahdiyeh Behnam, Bilge Noyan, Lúcia Lacerda, Michael T. Geraghty, Damian Labuda, Roberto Giugliani, Alexey V. Pshezhetsky

    منشور في 2019
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  6. 6
    Back Cover, Volume 40, Issue 8

    Back Cover, Volume 40, Issue 8 حسب C Martins, Paula Frassinetti Vasconcelos de Medeiros, Sandra Leistner‐Segal, Larbi Dridi, Nursel Elçioğlu, Chen Ji, Mahdiyeh Behnam, Bilge Noyan, Lúcia Lacerda, Michael T. Geraghty, Damian Labuda, Roberto Giugliani, Alexey V. Pshezhetsky

    منشور في 2019
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    Paratexto
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  7. 7
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome حسب 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

    منشور في 2015
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    Artigo
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  8. 8
    Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

    Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations حسب Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri, Cristina Gervasini, Nursel Elçioğlu, Deniz Yücelten, İlknur Kıvanç Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K. Sullivan, Albert C. Yan, Ludovica Volpi, Lidia Larizza

    منشور في 2012
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    Artigo
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  9. 9
    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome حسب Brian Kelley, Fransiska Malfait, Luisa Bonafé, Dustin Baldridge, Erica P. Homan, Sofie Symoens, Andy Willaert, Nursel Elçioğlu, Lionel Van Maldergem, Christine Verellen‐Dumoulin, Y. Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti‐Furga, Anne De Paepe, Brendan Lee

    منشور في 2010
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    Artigo
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  10. 10
    Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

    Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study حسب Terri H. Beaty, Margaret A. Taub, Alan F. Scott, Jeffrey C. Murray, Mary L. Marazita, Holger Schwender, Margaret M. Parker, Jacqueline B. Hetmanski, Poojitha Balakrishnan, M. Adela Mansilla, Elisabeth Mangold, Kerstin U. Ludwig, Markus M. Nöethen, Michele Rubini, Nursel Elcioğlu, Ingo Ruczinski

    منشور في 2013
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    Artigo
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  11. 11
    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects حسب Kamron Khan, Clare V. Logan, Martin McKibbin, Eamonn Sheridan, Nursel Elçioğlu, Özlem Yenice, David Parry, Narcís Fernández‐Fuentes, Zakia Abdelhamed, Ahmed Al-Maskari, James A. Poulter, Moin Mohamed, Ian Carr, Joanne Morgan, Hussain Jafri, Yasmin Raashid, Graham R. Taylor, Colin A. Johnson, Chris F. Inglehearn, Carmel Toomes, Manir Ali

    منشور في 2011
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    Artigo
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  12. 12
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis حسب Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    منشور في 2017
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  13. 13
    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 حسب 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

    منشور في 2013
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  14. 14
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome حسب 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

    منشور في 2015
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  15. 15
    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 حسب 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

    منشور في 2010
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  16. 16
    The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

    The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey حسب Ayşegül Ozantürk, Jan D. Marshall, Gayle B. Collin, Selma Düzenli, Robert Percy Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz Güleç, Ender Karaca, Mehmet Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Muller, Jürgen Κ. Naggert, Rıza Köksal Özgül

    منشور في 2014
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    Revisão
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  17. 17
    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway حسب Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniené, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Nursel Elçioğlu, Siavash Ghaderi‐Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia J. Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas Janecke, Alexander Hoischen, Martin Zenker

    منشور في 2014
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    Artigo
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  18. 18
    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin حسب Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir, Elif Ozdamar Yilmaz, Gulsen Akay Tayfun, Hatip Aydın, Deniz Torun, Sevcan Tuğ Bozdoğan, Alper Gezdirici, Sedat Işıkay, Mehmed M. Atik, Tomasz Gambin, Tamar Harel, Ayman W. El‐Hattab, Wu‐Lin Charng, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Ali̇ Karaman, Tamer Çelik, Özge Özalp Yüreğir, Timur Yıldırım, Avni İlhan Bayhan, Eric Boerwinkle, Richard A. Gibbs, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski

    منشور في 2016
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    Artigo
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  19. 19
    The genomic and clinical landscape of fetal akinesia

    The genomic and clinical landscape of fetal akinesia حسب Matthias Pergande, Susanne Motameny, Özkan Özdemir, Mona Kreutzer, Haicui Wang, Hülya‐Sevcan Daimagüler, Kerstin Becker, Mert Karakaya, Harald Ehrhardt, Nursel Elçioğlu, Slavica Ostojić, Cho‐Ming Chao, Amit Kawalia, Özgür Duman, Anne Koy, Andreas Hahn, Jens Reimann, Katharina Schoner, Anne Schänzer, Jens H. Westhoff, Eva Maria Christina Schwaibold, Mireille Cossée, Marion Imbert‐Bouteille, Harald von Pein, Göknur Haliloğlu, Haluk Topaloğlu, Janine Altmüller, Peter Nürnberg, Hölger Thiele, Raoul Heller, Sebahattin Çırak

    منشور في 2019
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    Artigo
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  20. 20
    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 حسب 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

    منشور في 2015
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