অনুসন্ধান ফলাফলগুলি - Magalie S. Leduc

  • প্রদর্শন 1 - 10 ফলাফল এর 10
ফলাফল পরিমার্জন করুন
  1. 1
    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders অনুযায়ী Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S. Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Christine M. Eng

    প্রকাশিত 2013
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  2. 2
    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects অনুযায়ী Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E. Kaye, Jun Liao, Jill A. Rosenfeld, Naomi Yachelevich, M. L. Chu, Wendy G. Mitchell, Richard G. Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Victor Wei Zhang, Fan Xia, Magalie S. Leduc, Yaping Yang, Christine M. Eng, Lee-Jun Wong, Raphael Schiffmann, George A. Díaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  3. 3
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole exome sequencing and chromosomal microarray

    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole ex... অনুযায়ী Diana K. Bayer, Caridad Martinez, Hanne Sørmo Sorte, Lisa R. Forbes, Gail J. Demmler‐Harrison, I. Celine Hanson, Nathaniel M. Pearson, Lenora M. Noroski, Sherif R. Zaki, William J. Bellini, Magalie S. Leduc, Yuan Yang, Christine M. Eng, Ankita Patel, Olaug K. Rødningen, Donna M. Muzny, Richard A. Gibbs, Ian M. Campbell, Chad A. Shaw, Mei Baker, V Zhang, James R. Lupski, Jordan S. Orange, Filiz O. Seeborg, Asbjørg Stray‐Pedersen

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  4. 4
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing অনুযায়ী Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  5. 5
    Frequency of genomic secondary findings among 21,915 eMERGE network participants

    Frequency of genomic secondary findings among 21,915 eMERGE network participants অনুযায়ী Allan Gordon, Hana Zouk, Eric Venner, Christine M. Eng, Birgit Funke, Laura M. Amendola, David Carrell, Rex L. Chisholm, Wendy K. Chung, Joshua C. Denny, Alexander Fedotov, Hákon Hákonarson, Iftikhar J. Kullo, Eric B. Larson, Magalie S. Leduc, Kathleen A. Leppig, Niall J. Lennon, Jodell E. Linder, Donna M. Muzny, Cynthia A. Prows, Laura J. Rasmussen‐Torvik, Hila Milo Rasouly, Dan M. Roden, Elisabeth A. Rosenthal, Maureen E. Smith, Ian B. Stanaway, Sara L. Van Driest, Kimberly Walker, Georgia L. Wiesner, Marc S. Williams, Leora Witkowski, David R. Crosslin, Richard A. Gibbs, Heidi L. Rehm, Gail P. Jarvik

    প্রকাশিত 2020
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  6. 6
    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females

    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females অনুযায়ী Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Yılmaz Güleç, Yunyun Jiang, Sandra Darilek, Adam Hansen, Michael M. Khayat, Davut Pehli̇van, Juliette Piard, Donna M. Muzny, Neil A. Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  7. 7
    Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

    Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features অনুযায়ী Raphaël Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S. Leduc, Yaping Yang, Katie Bergstrom, Donald H. Mahoney, Deborah L. Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S. Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati‐Bonneau, Vincent Procaccio, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Naël Osmani, Olivier Lefèbvre, Jacky G. Goetz, Şule Ünal, Nurten Akarsu, Mirjana Radosavljevic, Marie‐Pierre Chenard, Fanny Rialland, Audrey Grain, Marie C. Béné, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin‐Robinet, Julien Thévenon, Kasiani C. Myers, Mark D. Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Éric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  8. 8
    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations অনুযায়ী Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep H. Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid S. Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus A. Wilfong, Hope Northrup, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane E. Crosson, Jessica Duis, Gustavo Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett H. Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  9. 9
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units অনুযায়ী Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  10. 10
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder অনুযায়ী Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:

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