检索结果 - Daniel Luksic

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    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder 由 Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    出版 2016
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  2. 2
    Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

    Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 由 Jessica X. Chong, Lindsay C. Burrage, Anita Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

    出版 2015
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  3. 3
    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 由 Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad R. Haldeman‐Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Małgorzata J.M. Nowaczyk, Jolien S. Klein Wassink‐Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

    出版 2015
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