Søgeresultater - Lacey Smith

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  1. 1
    The course of patients after variceal hemorrhage

    The course of patients after variceal hemorrhage af David Y. Graham, J. Lacey Smith

    Udgivet 1981
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  2. 2
    Variceal Hemorrhage

    Variceal Hemorrhage af J. Lacey Smith, David Y. Graham

    Udgivet 1982
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  3. 3
    Variceal hemorrhage: a critical evaluation of survival analysis.

    Variceal hemorrhage: a critical evaluation of survival analysis. af J. Lacey Smith, David Y. Graham

    Udgivet 1982
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  4. 4
    Sensitivity of the Esophageal Mucosa to pH in Gastroesophageal Reflux Disease

    Sensitivity of the Esophageal Mucosa to pH in Gastroesophageal Reflux Disease af J. Lacey Smith, Antone R. Opekun, Edwin Larkai, David Y. Graham

    Udgivet 1989
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  5. 5
    Sensitivity of the esophageal mucosa to pH in gastroesophageal reflux disease

    Sensitivity of the esophageal mucosa to pH in gastroesophageal reflux disease af J. Lacey Smith, Antone R. Opekun, Edwin Larkai, David Y. Graham

    Udgivet 1989
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  6. 6
    Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

    Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors af Lacey Smith, Jennifer Malinowski, Sophia Ceulemans, Katlin Peck, Nephi Walton, Beth Rosen Sheidley, Natalie Lippa

    Udgivet 2022
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  7. 7
    <i>PCDH19</i> -related epilepsy is associated with a broad neurodevelopmental spectrum

    <i>PCDH19</i> -related epilepsy is associated with a broad neurodevelopmental spectrum af Lacey Smith, Nilika S. Singhal, Christelle Moufawad El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri

    Udgivet 2018
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  8. 8
    RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking

    RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking af Kathleen J. Haley, Jessica Lasky‐Su, Sara E. Manoli, Lacey Smith, Aliakbar Shahsafaei, Scott T. Weiss, Kelan G. Tantisira

    Udgivet 2011
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  9. 9
    Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

    Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort af Anne Rochtus, Heather E. Olson, Lacey Smith, Louisa G. Keith, Christelle Moufawad El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain, Shira Rockowitz, Beth Rosen Sheidley, Annapurna Poduri

    Udgivet 2020
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  10. 10
    Children’s rare disease cohorts: an integrative research and clinical genomics initiative

    Children’s rare disease cohorts: an integrative research and clinical genomics initiative af Shira Rockowitz, Nicholas LeCompte, Mary M. Carmack, Andrew Quitadamo, Lily Wang, Meredith Park, Devon Knight, Emma Sexton, Lacey Smith, Beth Rosen Sheidley, Michael Field, Ingrid A. Holm, Catherine A. Brownstein, Pankaj B. Agrawal, Susan Kornetsky, Annapurna Poduri, Scott B. Snapper, Alan H. Beggs, Timothy W. Yu, David A. Williams, Piotr Sliz

    Udgivet 2020
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  11. 11
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila af Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Udgivet 2017
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  12. 12
    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals af Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig, Jing Gan, Shiva Ganesan, Michael C. Kaufman, Colin A. Ellis, David Lewis‐Smith, Peter D. Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Góes, Christelle Moufawad El Achkar, Jan H Doering, Francesca Furia, Ángeles García‐Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik, Hanna C. A. Lammertse, Jeehun Lee, Alexandra T. Mackie, Mala Misra‐Isrie, Heather E. Olson, Emma Sexton, Beth Rosen Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke M. van Haelst, Christopher J. Yuskaitis, Sarah Weckhuysen, Benjamin L. Prosser, Charlene Son Rigby, Scott Demarest, Samuel R. Pierce, Yuehua Zhang, Rikke S. Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig

    Udgivet 2021
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  13. 13
    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis af Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, Delphine Héron, Katrina Tatton‐Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. De Backer, Erik‐Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Bürglen, Gaëtan Lesca, Megan T. Cho, Lacey Smith, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta de Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, Jean Donadieu, Vinodh Narayanan, Keri Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau‐Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thévenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet

    Udgivet 2018
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  14. 14
    Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

    Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy af Hyun Yong Koh, Lacey Smith, Kimberly Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma Sexton, Julia Koh, Brandon T. Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna Poduri, Elizabeth Barkoudah, Ann M. Bergin, Miya E. Bernson‐Leung, Elizabeth Binney, Jeffrey Bolton, Stephanie Donatelli, Darius Ebrahimi‐Fakhari, Mark Gorman, Chellamani Harini, Divya Jayaraman, Agnieszka Kielian, Lauren LaFortune, Kerri L. LaRovere, Mark H. Libenson, David N. Lieberman, Tobias Loddenkemper, Candice Marti, Anna Minster, Kate Mysak, Ann Paris, Archana A. Patel, Phillip L. Pearl, Jurriaan M. Peters, A Gomes Pinto, Peter Raffalli, Alexander Rotenberg, Catherine L. Salussolia, Rebecca Sarvendram, Hannah Shapiro, Janet S. Soul, Sarah Spence, Karen Spencer, Robert C. Stowe, Coral M. Stredny, Masanori Takeoka, Molly Tracy, Sara Trowbridge, Melissa Tsuboyama, David K. Urion

    Udgivet 2023
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  15. 15
    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy af Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne G. Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White

    Udgivet 2019
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  16. 16
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias af Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Udgivet 2018
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