检索结果 - Merih Berberoğlu
- Showing 1 - 9 results of 9
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Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum 由 Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniené, Beyhan Tüysüz, Outi Mäkitie
出版 2016Artigo -
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Human and mouse<i>TPIT</i>gene mutations cause early onset pituitary ACTH deficiency 由 Anne-Marie Pulichino, Sophie Vallette-Kasic, Catherine Couture, Yves Gauthier, Thierry Brue, M David, G Malpuech, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Jacques Drouin
出版 2003Artigo -
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Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes 由 Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Samir Elbarbary, Zeynep Şıklar, Merih Berberoğlu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Al-Yaarubi, Daphne Gardner, Ayla Güven, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
出版 2017Artigo -
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Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation 由 Sarah E. Flanagan, Weijia Xie, Richard Caswell, Annet Damhuis, Christine Vianey‐Saban, Teoman Akçay, Feyza Darendelıler, Firdevs Baş, Ayla Güven, Zeynep Şıklar, Gönül Öçal, Merih Berberoğlu, Nuala Murphy, Maureen J. O’Sullivan, Andrew Green, Peter Clayton, Indraneel Banerjee, Peter T. Clayton, Khalid Hussain, Michael N. Weedon, Sian Ellard
出版 2012Artigo -
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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations 由 Sophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, Magali Gueydan, Anne Barlier, M David, Marc Nicolino, G Malpuech, Pierre Déchelotte, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Francis de Zegher, Dominique Beckers, Jennifer Kyllo, Patricia A. Donohoue, Martin Faßnacht, Stefanie Hahner, Bruno Allolio, C. Noordam, Leo Dunkel, Matti Hero, B. Pigeon, Jacques Weill, Sevket Yigit, Raja Brauner, Juan J. Heinrich, Elizabeth A. Cummings, Christie Riddell, A Enjalbert, Jacques Drouin
出版 2005Artigo
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