Resultados de búsqueda - Elif Uz

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  1. 1
    Mutations in the very low-density lipoprotein receptor <i>VLDLR</i> cause cerebellar hypoplasia and quadrupedal locomotion in humans

    Mutations in the very low-density lipoprotein receptor <i>VLDLR</i> cause cerebellar hypoplasia and quadrupedal locomotion in humans por Tayfun Özçelık, Nurten Akarsu, Elif Uz, Şafak Çağlayan, Süleyman Gülsüner, Onur Emre Onat, Meli̇ha Tan, Üner Tan

    Publicado 2008
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  2. 2
    Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

    Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity por Tayfun Özçelık, Elif Uz, Cemaliye Boylu Akyerli, Sevgi Baǧışlar, Chigdem A Mustafa, Alptekin Gürsoy, Nurten Akarsu, Gökçe Törüner, Nuri Kamel, Sevim Güllü

    Publicado 2006
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  3. 3
    Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

    Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases por Ghazi Chabchoub, Elif Uz, Abdellatif Maalej, Chigdem A Mustafa, Ahmed Rebaï, Mouna Mnif, Z. Bahloul, Nadir R. Farid, Tayfun Özçelık, Hammadi Ayadi

    Publicado 2009
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  4. 4
    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 por 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

    Publicado 2010
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  5. 5
    ALX4 dysfunction disrupts craniofacial and epidermal development

    ALX4 dysfunction disrupts craniofacial and epidermal development por 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

    Publicado 2009
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  6. 6
    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 por 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

    Publicado 2013
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  7. 7
    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes por Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, Erica E. Davis, Yasemin Alanay, Gönül Oğur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gülen Eda Ütine, Koray Boduroğlu, Patrick Nitschké, L. Fertitta, Christel Thauvin‐Robinet, Arnold Münnich, Valérie Cormier‐Daire, Raoul C. M. Hennekam, Estelle Colin, Nurten Akarsu, Christine Bôle‐Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha‐Razavi, Jean‐Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzalès, Michel Vekemans, Philip L. Beales, Tania Attié‐Bitach

    Publicado 2011
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