Torthaí cuardaigh - Yasemin Alanay

Beachtaigh na torthaí
  1. 1
    A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

    A Review of the Principles of Radiological Assessment of Skeletal Dysplasias de réir Yasemin Alanay, Ralph S. Lachman

    Foilsithe / Cruthaithe 2011
    Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  2. 2
    Congenital contractural arachnodactyly (Beals syndrome)

    Congenital contractural arachnodactyly (Beals syndrome) de réir Ergül Tunçbılek, Yasemin Alanay

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  3. 3
    Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

    Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis de réir Deborah Krakow, Yasemin Alanay, Lauren Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

    Foilsithe / Cruthaithe 2008
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  4. 4
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 de réir Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  5. 5
    Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

    Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features de réir Ahmet Arman, Abdullah Bereket, Ajda Çoker Gürkan, Pelin Özlem Şimşek‐Kiper, Tülay Güran, Behzat Özkan, Zeynep Atay, Teoman Akçay, Belma Haliloğlu, Koray Boduroğlu, Yasemin Alanay, Serap Turan

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  6. 6
    A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

    A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen de réir Iván Durán, Jorge Martı́n, Mary Ann Weis, Pavel Krejčı́, Peter Koník, Bing Li, Yasemin Alanay, Caressa Lietman, Brendan Lee, David R. Eyre, Daniel H. Cohn, Deborah Krakow

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  7. 7
    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome de réir Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah M. Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen W. Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti‐Furga

    Foilsithe / Cruthaithe 2008
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  8. 8
    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases de réir Tatsuya Furuichi, Hülya Kayserili, Shûichi Hiraoka, Gen Nishimura, Hirofumi Ohashi, Yasemin Alanay, JUAN LERENA, Ayça Dilruba Aslanger, Haruhiko Koseki, Daniel H. Cohn, Andrea Superti‐Furga, Sheila Unger, Shiro Ikegawa

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán
    Carta
    Cuir le mo chuid Ceanán
    Sábháilte in:
  9. 9
    Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

    Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia de réir Elif Uz, Yasemin Alanay, Dilek Aktaş, İbrahim Vargel, Şafak Güçer, Gökhan Tunçbįlek, Ferdinand von Eggeling, Engin Yılmaz, Özgür Deren, Nicole Posorski, Hi̇lal Özdağ, Thomas Liehr, Sevim Balcı, Mehmet Alikaşifoĝlu, Bernd Wollnik, Nurten Akarsu

    Foilsithe / Cruthaithe 2010
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  10. 10
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

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

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  11. 11
    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type de réir Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Şimşek‐Kiper, Hester Y. Kroes, Koenraad Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait

    Foilsithe / Cruthaithe 2016
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  12. 12
    ALX4 dysfunction disrupts craniofacial and epidermal development

    ALX4 dysfunction disrupts craniofacial and epidermal development de réir 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

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  13. 13
    BCL11B-related disease: a single phenotypic entity?

    BCL11B-related disease: a single phenotypic entity? de réir Juliana Heather Vedovato dos Santos, Rebecca S Tooze, Sivagamy Sithambaram, Emma McCann, Yasemin Alanay, Özlem Doğan, Meltem Kilercik, Ayşen Bingöl, M. Memet Özek, David H. Johnson, Christoffer Nellåker, Andrew O.M. Wilkie, Stephen R.F. Twigg

    Foilsithe / Cruthaithe 2025
    Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  14. 14
    Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

    Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid de réir Kathrin Laue, Hans‐Martin Pogoda, Philip B. Daniel, Arie van Haeringen, Yasemin Alanay, Simon von Ameln, Martin Rachwalski, Tim Morgan, Mary Jane Gray, Martijn H. Breuning, Gregory M. Sawyer, Andrew J. Sutherland‐Smith, Peter G. J. Nikkels, Christian Kubisch, Wilhelm Bloch, Bernd Wollnik, Matthias Hammerschmidt, Stephen P. Robertson

    Foilsithe / Cruthaithe 2011
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  15. 15
    Identification of CANT1 Mutations in Desbuquois Dysplasia

    Identification of CANT1 Mutations in Desbuquois Dysplasia de réir Céline Huber, Bénédicte Oulès, Marta Bértoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, L.I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti‐Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Münnich, Valérie Cormier‐Daire

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  16. 16
    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 de réir 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

    Foilsithe / Cruthaithe 2013
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  17. 17
    <i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity

    <i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity de réir Eun Hye Lee, Olivia Kim McManus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Y. Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stanley Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Linda R. Friedman, Naomi Meave Ojeda, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2025
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  18. 18
    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB de réir Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  19. 19
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome de réir 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

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  20. 20
    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome de réir Zafar Iqbal, Pilar Cejudo–Martín, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz‐Lozano, Maria Cecilia Scimia, James D. Lindsey, Robert N. Weinreb, Beate Albrecht, André Mégarbané, Yasemin Alanay, Ziva Ben‐Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luís Millán, Raoul C. M. Hennekam, Ben C.J. Hamel, Sara A. Courtneidge, Hans van Bokhoven

    Foilsithe / Cruthaithe 2010
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:

Uirlisí cuardaigh: