Výsledky vyhledávání - Shane C. Quinonez

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  1. 1
    Human HOX gene disorders

    Human HOX gene disorders Autor Shane C. Quinonez, Jeffrey W. Innis

    Vydáno 2013
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  2. 2
    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis Autor Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen, Marie Falkenberg Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth T. DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth Roeder, Kimberly Nugent, Arie van Haeringen, Michael J. Gambello, Avni Santani, Līvija Medne, Bryan L. Krock, Cara Skraban, Elaine H. Zackai, Holly Dubbs, Thomas Smol, Jamal Ghoumid, Michael Parker, Michael Wright, Peter D. Turnpenny, Jill Clayton‐Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

    Vydáno 2019
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  3. 3
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Autor Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    Vydáno 2019
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