检索结果 - Adolfo D. Garnica

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  1. 1
    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster 由 Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet

    出版 2008
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  2. 2
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss 由 Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
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  3. 3
    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors 由 Christina Lam, Gretchen Golas, Mariska Davids, Marjan Huizing, Megan Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih M. Zein, Andrea Gropman, Maya Lodish, Constantine A. Stratakis, Irina Marić, Sergio D. Rosenzweig, Eva H. Baker, Carlos R. Ferreira, Noelle R. Danylchuk, Stephen G. Kahler, Adolfo D. Garnica, G. Bradley Schaefer, Cornelius F. Boerkoel, William A. Gahl, Lynne A. Wolfe

    出版 2015
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  4. 4
    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements 由 Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Shweta U. Dhar, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie Withers, Carlos A. Bacino, Luis Daniel Campos-Acevedo, Mauricio R. Delgado, Debra Freedenberg, Adolfo D. Garnica, Theresa A. Grebe, Dolores Hernández-Almaguer, LaDonna Immken, Seema R. Lalani, Scott D. McLean, Hope Northrup, Fernando Scaglia, Lane Strathearn, Pamela Trapane, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, P. J. Hastings, Paweł Stankiewicz, James R. Lupski, Weimin Bi

    出版 2011
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  5. 5
    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities 由 Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel

    出版 2008
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  6. 6
    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect 由 Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

    出版 2018
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