Search Results - Debra Freedenberg

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  1. 1
    The incidence of urea cycle disorders

    The incidence of urea cycle disorders by Marshall Summar, Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Häberle, Hye‐Seung Lee, Brian Kirmse

    Published 2013
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  2. 2
    Health Supervision for Children With Marfan Syndrome

    Health Supervision for Children With Marfan Syndrome by Brad T. Tinkle, Howard M. Saal, Robert A. Saul, Stephen R. Braddock, Emily Chen, Debra Freedenberg, Marilyn C. Jones, James M. Perrin, Beth A. Tarini

    Published 2013
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  3. 3
    Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

    Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays by John B. Moeschler, Michael Shevell, John B. Moeschler, Michael Shevell, Robert A. Saul, Emily Chen, Debra Freedenberg, Rizwan Hamid, Marilyn C. Jones, Joan M. Stoler, Beth A. Tarini

    Published 2014
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  4. 4
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency by Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

    Published 2009
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  5. 5
    Relapsing diabetes can result from moderately activating mutations in KCNJ11

    Relapsing diabetes can result from moderately activating mutations in KCNJ11 by Anna L. Gloyn, Frank Reimann, Christophe A. Girard, Emma L. Edghill, Peter Proks, Ewan R. Pearson, I. Karen Temple, Deborah Mackay, Julian Hamilton‐Shield, Debra Freedenberg, Kathryn Noyes, Sian Ellard, Frances M. Ashcroft, Fiona M. Gribble, Andrew T. Hattersley

    Published 2005
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  6. 6
    Health Supervision for Children With Neurofibromatosis Type 1

    Health Supervision for Children With Neurofibromatosis Type 1 by David T. Miller, Debra Freedenberg, Elizabeth K. Schorry, Nicole J. Ullrich, David Viskochil, Bruce R. Korf, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela E. Scheuerle, Joan M. Stoler

    Published 2019
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  7. 7
    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region by Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters, Sung-Hae L. Kang, Chin-To Fong, Jessica Salamone, Debra Freedenberg, Vickie Hannig, Lisa Albers Prock, David T. Miller, Peter Raffalli, D. James Harris, Robert P. Erickson, Christopher Cunniff, Gary Clark, Maria Blazo, Daniel A. Peiffer, Kevin L. Gunderson, Trilochan Sahoo, Ankita Patel, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    Published 2007
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  8. 8
    Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

    Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males by Daniela del Gaudio, Ping Fang, Fernando Scaglia, Patricia A. Ward, William J. Craigen, Daniel G. Glaze, Jeffrey L. Neul, Ankita Patel, Jennifer A. Lee, Mira Irons, Susan A. Berry, Amber A. Pursley, Theresa A. Grebe, Debra Freedenberg, Rick A. Martin, Gary Hsich, Jena R Khera, Neil Friedman, Huda Y. Zoghbi, Christine M. Eng, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung, Benjamin B. Roa

    Published 2006
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  9. 9
    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements by 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

    Published 2011
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  10. 10
    Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

    Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States by Antonia Kwan, Roshini S. Abraham, Robert J. Currier, Amy Brower, Karen Andruszewski, Jordan K. Abbott, Mei Baker, Mark Ballow, Louis Bartoshesky, Francisco A. Bonilla, Charles D. Brokopp, Edward G. Brooks, Michele Caggana, Jocelyn Celestin, Joseph A. Church, Anne Marie Comeau, James A. Connelly, Morton J. Cowan, Charlotte Cunningham‐Rundles, Trivikram Dasu, Nina Dave, M. Teresa de la Morena, Ulrich Duffner, Chin-To Fong, Lisa R. Forbes, Debra Freedenberg, Erwin W. Gelfand, Jaime E. Hale, I. Celine Hanson, Beverly N. Hay, Diana Hu, Anthony J. Infante, Daisy Johnson, Neena Kapoor, Denise M. Kay, Donald B. Kohn, Rachel Lee, Heather K. Lehman, Zhili Lin, Fred Lorey, Aly Abdel‐Mageed, Adrienne Manning, Sean McGhee, Theodore B. Moore, Stanley J. Naides, Luigi D. Notarangelo, Jordan S. Orange, Sung‐Yun Pai, Matthew H. Porteus, Ray Rodríguez, Neil Romberg, John M. Routes, Mary Ruehle, Arye Rubenstein, Carlos A. Saavedra‐Matiz, G. E. M. Scott, Patricia M. Scott, Elizabeth Secord, Christine M. Seroogy, William T. Shearer, Subhadra Siegel, Stacy K. Silvers, E. Richard Stiehm, Robert W. Sugerman, John L. Sullivan, Susan Tanksley, Millard L. Tierce, James Verbsky, Beth Vogel, Roz Walker, Kelly Walkovich, Jolán E. Walter, Richard L. Wasserman, Michael S. Watson, Geoffrey A. Weinberg, Leonard B. Weiner, Heather Wood, Anne Yates, Jennifer M. Puck

    Published 2014
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