檢索結果 - Lacey Smith

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  1. 1
    The course of patients after variceal hemorrhage

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

    出版 1981
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  2. 2
    Variceal Hemorrhage

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

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

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

    出版 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 由 J. Lacey Smith, Antone R. Opekun, Edwin Larkai, David Y. Graham

    出版 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 由 J. Lacey Smith, Antone R. Opekun, Edwin Larkai, David Y. Graham

    出版 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 由 Lacey Smith, Jennifer Malinowski, Sophia Ceulemans, Katlin Peck, Nephi Walton, Beth Rosen Sheidley, Natalie Lippa

    出版 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 由 Lacey Smith, Nilika S. Singhal, Christelle Moufawad El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri

    出版 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 由 Kathleen J. Haley, Jessica Lasky‐Su, Sara E. Manoli, Lacey Smith, Aliakbar Shahsafaei, Scott T. Weiss, Kelan G. Tantisira

    出版 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 由 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

    出版 2020
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  10. 10
    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies 由 Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, Rhys H. Thomas, Roland Krause, Yvonne G. Weber, Ingo Helbig

    出版 2020
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  11. 11
    Children’s rare disease cohorts: an integrative research and clinical genomics initiative

    Children’s rare disease cohorts: an integrative research and clinical genomics initiative 由 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

    出版 2020
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  12. 12
    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 由 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

    出版 2017
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  13. 13
    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals 由 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

    出版 2021
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  14. 14
    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 由 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

    出版 2018
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  15. 15
    Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

    Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy 由 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

    出版 2023
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  16. 16
    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 由 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

    出版 2019
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  17. 17
    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 由 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

    出版 2018
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