檢索結果 - Anne Chun-Hui Tsai

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  1. 1
    Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

    Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease 由 Beth L. Thurberg, Colleen Maloney, C A Vaccaro, Kendra Afonso, Anne Chun-Hui Tsai, Edward H. Bossen, Priya S. Kishnani, M. W. O'CALLAGHAN

    出版 2006
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  2. 2
    Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

    Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability 由 Jennifer Malinowski, David T. Miller, Laurie Demmer, Jennifer Gannon, Elaine M. Pereira, Molly C. Schroeder, Maren T. Scheuner, Anne Chun‐Hui Tsai, Scott E. Hickey, Jun Shen

    出版 2020
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  3. 3
    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH 由 Anne Chun-Hui Tsai, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A Eng, Beata Nowakowska, Amber N. Pursley, Paweł Stankiewicz, Joanna Wiszniewska, Sau Wai Cheung

    出版 2010
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  4. 4
    Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

    Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease 由 Priya S. Kishnani, Marc Nicolino, Thomas Voït, Richard C. Rogers, Anne Chun-Hui Tsai, John Waterson, Gail E. Herman, Andreas Amalfitano, Beth L. Thurberg, Susan Richards, Mark A. Davison, Deyanira Corzo, Yuting Chen

    出版 2006
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  5. 5
    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions 由 Christian P. Schaaf, Philip M. Boone, Srirangan Sampath, Charles A. Williams, Patricia I. Bader, Jennifer M. Mueller, Oleg A. Shchelochkov, Chester Brown, Heather P. Crawford, James A. Phalen, Nicole Tartaglia, Patricia Evans, William M. Campbell, Anne Chun‐Hui Tsai, Lea Parsley, Stephanie W Grayson, Angela E. Scheuerle, Carol D Luzzi, Sandra K Thomas, Patricia A. Eng, Sung-Hae L. Kang, Ankita Patel, Paweł Stankiewicz, Sau Wai Cheung

    出版 2012
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  6. 6
    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization 由 Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Līvija Medne, Rosemarie Rupps, Alvaro Serrano, Erik C. Thorland, Anne Chun‐Hui Tsai, Yvonne Hilhorst‐Hofstee, Claudia Ruivenkamp, Hilde Van Esch, Marie‐Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz

    出版 2012
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  7. 7
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders 由 Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    出版 2019
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  8. 8
    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome 由 Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester Brown, Pilar Magoulas, Anne Chun‐Hui Tsai, Areeg El‐Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro‐Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise G. Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus A. Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid S. Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

    出版 2014
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  9. 9
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes 由 Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    出版 2013
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  10. 10
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 由 Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    出版 2010
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  11. 11
    A dyadic approach to the delineation of diagnostic entities in clinical genomics

    A dyadic approach to the delineation of diagnostic entities in clinical genomics 由 Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian Glass, John M. Graham, Karen W. Gripp, Chad R. Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate

    出版 2021
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  12. 12
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway 由 Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    出版 2019
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