檢索結果 - Ercan Mıhçı

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  1. 1
    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation 由 Binita M. Kamath, Brian Thiel, Xiaowu Gai, Laura K. Conlin, Pedro S Munoz, Joseph Glessner, Dinah Clark, Daniel M. Warthen, Tamim H. Shaikh, Ercan Mıhçı, David A. Piccoli, Struan F.A. Grant, Hákon Hákonarson, Ian D. Krantz, Nancy B. Spinner

    出版 2008
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  2. 2
    Chloride Channel <i>ClCN7</i> Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

    Chloride Channel <i>ClCN7</i> Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis 由 Annalisa Frattini, Alessandra Pangrazio, S. P. Lucia, Cristina Sobacchi, M. Mirolo, Mario Abinun, M Andolina, Adrienne M. Flanagan, Edwin M. Horwitz, Ercan Mıhçı, Luigi D. Notarangelo, Ugo Ramenghi, Anna Teti, Johan Van Hove, Dragana Vujić, Terri L. Young, Alberto Albertini, Paul J. Orchard, Paolo Vezzoni, Anna Villa

    出版 2003
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  3. 3
    Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

    Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 由 Alessandra Pangrazio, Michael Pusch, Elena Caldana, Annalisa Frattini, Edoardo Lanino, Parag Tamhankar, Shubha R. Phadke, Antonio Gonzalez Meneses Lopez, Paul J. Orchard, Ercan Mıhçı, Mario Abinun, Michael Wright, Kim Vettenranta, Ivo Bariæ, Daniela Melis, İlhan Tezcan, Clarisse Baumann, Franco Locatelli, Marco Zecca, Edwin M. Horwitz, L. Sfaihi, Mirjam Van Roij, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

    出版 2009
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  4. 4
    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey 由 Barış Akıncı, Hüseyin Önay, Tevfik Demir, Samim Özen, Hülya Kayserili, Gülçin Akıncı, Banu Nur, Beyhan Tüysüz, Mehmet Nuri Özbek, Âdem Güngör, İlgın Yıldırım Şimşir, Canan Altay, Leyla Demir, Enver Şimşek, Murat Atmaca, Haluk Topaloğlu, Habib Bilen, Hulusi Atmaca, Tahir Atık, Ümit Çavdar, Umut Altunoğlu, Ayça Dilruba Aslanger, Ercan Mıhçı, Mustafa Seçil, Füsun Saygılı, Abdurrahman Çömlekçi, Abhimanyu Garg

    出版 2016
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  5. 5
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects 由 Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    出版 2018
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  6. 6
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies 由 Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    出版 2017
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