Resultats de la cerca - Stephanie Burns Wechsler

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  1. 1
    Cardiac Pathology in Glycogen Storage Disease Type III

    Cardiac Pathology in Glycogen Storage Disease Type III per Stephanie Austin, Alan D. Proia, Michele Spencer‐Manzon, Jagdish Butany, Stephanie Burns Wechsler, Priya S. Kishnani

    Publicat 2012
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  2. 2
    Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

    Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics per Priya S. Kishnani, Stephanie Austin, José E. Abdenur, Pamela Arn, Deeksha Bali, Anne Boney, Wendy K. Chung, Aditi I Dagli, David C. Dale, Dwight D. Koeberl, Michael J.G. Somers, Stephanie Burns Wechsler, David A. Weinstein, Joseph I. Wolfsdorf, Michael S. Watson

    Publicat 2014
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  3. 3
    Glycogen Storage Disease Type III diagnosis and management guidelines

    Glycogen Storage Disease Type III diagnosis and management guidelines per Priya S. Kishnani, Stephanie Austin, Pamela Arn, Deeksha Bali, Anne Boney, Laura E. Case, Wendy K. Chung, Dev M. Desai, Areeg El‐Gharbawy, Ronald G. Haller, Gerrit Smit, Alastair D. Smith, Lisa D. Hobson‐Webb, Stephanie Burns Wechsler, David A. Weinstein, Michael S. Watson

    Publicat 2010
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  4. 4
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features per Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    Publicat 2016
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  5. 5
    Factors Associated with Neurodevelopment for Children with Single Ventricle Lesions

    Factors Associated with Neurodevelopment for Children with Single Ventricle Lesions per Caren S. Goldberg, Minmin Lü, Lynn A. Sleeper, William T. Mahle, J. William Gaynor, Ismée A. Williams, Kathleen Mussatto, Richard G. Ohye, Eric M. Graham, Deborah U. Frank, Jeffrey P. Jacobs, Catherine D. Krawczeski, Linda M. Lambert, Alan B. Lewis, Victoria L. Pemberton, Renée Sananes, Erica Sood, Stephanie Burns Wechsler, David C. Bellinger, Jane W. Newburger

    Publicat 2014
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  6. 6
    Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

    Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy per Ronald V. Lacro, Lin T. Guey, Harry C. Dietz, Gail D. Pearson, Anji T. Yetman, Bruce D. Gelb, Bart Loeys, D. Woodrow Benson, Timothy J. Bradley, Julie De Backer, Geoffrey A. Forbus, Gloria L. Klein, Wyman W. Lai, Jami C. Levine, Mark Lewin, Larry W. Markham, Stephen M. Paridon, Mary Ella Pierpont, Elizabeth Radojewski, Elif Seda Selamet Tierney, Angela M. Sharkey, Stephanie Burns Wechsler, Lynn Mahony

    Publicat 2013
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  7. 7
    Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

    Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome per Ronald V. Lacro, Harry C. Dietz, Lynn A. Sleeper, Anji T. Yetman, Timothy J. Bradley, Steven D. Colan, Gail D. Pearson, Elif Seda Selamet Tierney, Jami C. Levine, Andrew M. Atz, D. Woodrow Benson, Alan C. Braverman, Shan Chen, Julie De Backer, Bruce D. Gelb, Paul Grossfeld, Gloria L. Klein, Wyman W. Lai, Aimée Liou, Bart Loeys, Larry W. Markham, Aaron K. Olson, Stephen M. Paridon, Victoria L. Pemberton, Mary Ella Pierpont, Reed E. Pyeritz, Elizabeth Radojewski, Mary J. Roman, Angela M. Sharkey, Mario Stylianou, Stephanie Burns Wechsler, Luciana Young, Lynn Mahony

    Publicat 2014
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  8. 8
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome per Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Publicat 2022
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  9. 9
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay per Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    Publicat 2017
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