检索结果 - Dilek Aktaş

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    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 由 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

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Complex small supernumerary marker chromosomes – an update

    Complex small supernumerary marker chromosomes – an update 由 Thomas Liehr, Sanja Cirković, Tanja Lalic, Marija Guć‐Šćekić, Cynthia de Almeida, Jörg Weimer, Ivan Y. Iourov, Maria Melaragno, Roberta Santos Guilherme, Eunice‐Georgia G. Stefanou, Dilek Aktaş, Katharina Kreskowski, Elisabeth Klein, Monika Ziegler, Nadezda Kosyakova, Marianne Volleth, Ahmed B. Hamid

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

    Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta 由 Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, Gülen Eda Ütine, Koray Boduroğlu, Dilek Aktaş, Mehmet Alikaşifoĝlu, Ergül Tunçbılek, Dıclehan Orhan, Filiz Tiker Bakar, B. Zabel, Andrea Superti‐Furga, Leena Bruckner‐Tuderman, Cindy J.R. Curry, Shawna M. Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, Elaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients

    Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients 由 Katrin Tefs, Marieta Gueorguieva, Jürgen Klammt, Carl M. Allen, Dilek Aktaş, F.Y. Anlar, Semih Aydoğdu, Deborah Brown, Ergi̇n Çi̇ftçi̇, P. Contarini, C.‐E. Dempfle, Miroslav Dostálek, Sheri Eisert, Aslan Gökbuget, Ömer Günhan, Ahmed A. Hidayat, Boris Hügle, Mete Işıkoğlu, Murat İrkeç, Shelagh Joss, Sonja Klebe, Carolin Kneppo, I Kurtulus, R. P. Mehta, Kemal Örnek, Reinhard Schneppenheim, Stefan Seregard, Emma L. Sweeney, Stephanie Turtschi, Gábor Veres, Evan Zeitler, M. Ziegler, Volker Schuster

    出版 2006
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paralog Studies Augment Gene Discovery: DDX and DHX Genes 由 Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski, Shalini N. Jhangiani, Sarah Rosenheck, Robert Kleyner, Taylor Marmorale, Margaret S. Yoon, Kai Wang, Reid Robison, Gerarda Cappuccio, Michele Pinelli, Adriano Magli, Zeynep Coban‐Akdemir, Joannie Hui, Wai Lan Yeung, Bibiana K. Y. Wong, Lucia Ortega, Mir Reza Bekheirnia, Tatjana Bierhals, Maja Hempel, Jessika Johannsen, René Santer, Dilek Aktaş, Mehmet Alikaşifoĝlu, Sevcan Tuğ Bozdoğan, Hatip Aydın, Ender Karaca, Yavuz Bayram, Hadas Ityel, Michael O. Dorschner, Janson J. White, Ekkehard Wilichowski, Saskia B. Wortmann, Erasmo Barbante Casella, João Paulo Kitajima, Fernando Kok, Fabíola Paoli Monteiro, Donna M. Muzny, Michael J. Bamshad, Richard A. Gibbs, V. Reid Sutton, Hilde Van Esch, Nicola Brunetti‐Pierri, Friedhelm Hildebrandt, Ariel Brautbar, Ignatia B. Van den Veyver, Ian Glass, Davor Lessel, Gholson J. Lyon, James R. Lupski

    出版 2019
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease 由 Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoĝlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals 由 Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    出版 2022
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: