Výsledky vyhledávání - Vishwanathan Hucthagowder

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  1. 1
    Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

    Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome Autor Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urbán

    Vydáno 2006
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  2. 2
    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations

    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations Autor Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Haußer, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul Coucke, Anne De Paepe, Zsolt Urbán

    Vydáno 2011
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  3. 3
    Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

    Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development Autor Zsolt Urbán, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorović, Lior Zilberberg, Ji-Won Choi, Carla Sens, Chester Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis

    Vydáno 2009
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  4. 4
    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival Autor Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Annika Aldinger, Ji-Won Choi, Elise Davis, Dianne Abuelo, Michael S. Adamowicz, Jumana Y. Al‐Aama, Lina Basel‐Vanagaite, Brianna Fernandez, Marie T. Greally, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tüysüz, Berrin Yüksel‐Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, Zsolt Urbán

    Vydáno 2009
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  5. 5
    Pathogenic Germline Variants in 10,389 Adult Cancers

    Pathogenic Germline Variants in 10,389 Adult Cancers Autor Kuan‐lin Huang, R. Jay Mashl, Yige Wu, Deborah Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila M. Reynolds, Matthew A. Wyczalkowski, Ninad Oak, Adam Scott, Michał Krassowski, Andrew D. Cherniack, Kathleen E. Houlahan, Reyka G. Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F. McMichael, Vishwanathan Hucthagowder, Tae‐Beom Kim, Abigail Hahn, Chen Wang, Michael D. McLellan, Fahd Al‐Mulla, Kimberly Johnson, Olivier Lichtarge, Paul C. Boutros, Benjamin J. Raphael, Alexander J. Lazar, Wei Zhang, Michael C. Wendl, Ramaswamy Govindan, Sanjay Jain, David A. Wheeler, Shashikant Kulkarni, John F. DiPersio, Jüri Reimand, Funda Meric‐Bernstam, Ken Chen, Ilya Shmulevich, Sharon E. Plon, Feng Chen, Li Ding, Rory Johnson, John A. Demchok, Ina Felau, Melpomeni Kasapi, Martin L. Ferguson, Carolyn M. Hutter, Heidi J. Sofia, Roy Tarnuzzer, Linghua Wang, Liming Yang, Jean C. Zenklusen, Jiashan Zhang, Sudha Chudamani, Jia Liu, Laxmi Lolla, Rashi Naresh, Todd Pihl, Qiang Sun, Yunhu Wan, Ye Wu, Juok Cho, Timothy Defreitas, Scott Frazer, Nils Gehlenborg, Gad Getz, David I. Heiman, Seungchan Kim, Michael S. Lawrence, Pei Lin, Thomas J. Giordano, Michael S. Noble, Gordon Saksena, Doug Voet, Hailei Zhang, Brady Bernard, Nyasha Chambwe, Varsha Dhankani, Theo Knijnenburg, Roger Kramer, Kalle Leinonen, Yuexin Liu, Michael B. Miller, Sheila M. Reynolds, Ilya Shmulevich, Vésteinn Thórsson, Wei Zhang, Rehan Akbani, Bradley M. Broom, Apurva M. Hegde, Zhenlin Ju, Rupa S. Kanchi, Anil Korkut, Jun Li

    Vydáno 2018
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