検索結果 - Ingo Helbig

結果の絞り込み
  1. 1
    Genetic Causes of Generalized Epilepsies

    Genetic Causes of Generalized Epilepsies 著者: Ingo Helbig

    出版事項 2015
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:
  2. 2
    Genetics of the epilepsies

    Genetics of the epilepsies 著者: Ingo Helbig, Daniel H. Lowenstein

    出版事項 2013
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  3. 3
    Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

    Understanding Genotypes and Phenotypes in Epileptic Encephalopathies 著者: Ingo Helbig, Ahmad Abou Tayoun

    出版事項 2016
    全文の入手 全文の入手
    Revisão
    お気に入りに追加
    保存先:
  4. 4
    The current landscape of epilepsy genetics: where are we, and where are we going?

    The current landscape of epilepsy genetics: where are we, and where are we going? 著者: Sarah M. Ruggiero, Julie Xian, Ingo Helbig

    出版事項 2023
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  5. 5
    Primer Part 1—The building blocks of epilepsy genetics

    Primer Part 1—The building blocks of epilepsy genetics 著者: Ingo Helbig, Erin L. Heinzen, Heather C. Mefford

    出版事項 2016
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  6. 6
    Connexin36 Mediates Spike Synchrony in Olfactory Bulb Glomeruli

    Connexin36 Mediates Spike Synchrony in Olfactory Bulb Glomeruli 著者: Jason M. Christie, Christine Bark, Sheriar G. Hormuzdi, Ingo Helbig, Hannah Monyer, Gary L. Westbrook

    出版事項 2005
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  7. 7
    Febrile infection‐related epilepsy syndrome (FIRES) is not caused by <i>SCN1A, POLG, PCDH19</i> mutations or rare copy number variations

    Febrile infection‐related epilepsy syndrome (FIRES) is not caused by <i>SCN1A, POLG, PCDH19</i> mutations or rare copy number variations 著者: Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie H. Müller, Gregor Kuhlenbäumer, Andreas van Baalen

    出版事項 2012
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  8. 8
    Status Epilepticus and Refractory Status Epilepticus Management

    Status Epilepticus and Refractory Status Epilepticus Management 著者: Nicholas S. Abend, David Bearden, Ingo Helbig, Jennifer L. McGuire, Sona Narula, Jessica A. Panzer, Alexis A. Topjian, Dennis Dlugos

    出版事項 2014
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  9. 9
    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

    Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy 著者: Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig

    出版事項 2016
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  10. 10
    Early mortality in SCN8A -related epilepsies

    Early mortality in SCN8A -related epilepsies 著者: Katrine M. Johannesen, Elena Gardella, Ingrid E. Scheffer, Katherine B. Howell, Douglas M. Smith, Ingo Helbig, Rikke S. Møller, Guido Rubboli

    出版事項 2018
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  11. 11
    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding 著者: Maryam Daniali, Peter D. Galer, David Lewis‐Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci, Jeffrey M. Miller, Scott Haag, Ingo Helbig

    出版事項 2023
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  12. 12
    Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus

    Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus 著者: Marin Jacobwitz, Caitlyn Mulvihill, Michael C. Kaufman, Alexander K. Gonzalez, Karla Resendiz, Jennifer MacDonald, Conall Francoeur, Ingo Helbig, Alexis Topjian, Nicholas S. Abend

    出版事項 2022
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  13. 13
    A structurally precise mechanism links an epilepsy-associated <i>KCNC2</i> potassium channel mutation to interneuron dysfunction

    A structurally precise mechanism links an epilepsy-associated <i>KCNC2</i> potassium channel mutation to interneuron dysfunction 著者: Jérôme Clatot, Christopher Brian Currin, Qiansheng Liang, Tanadet Pipatpolkai, Shavonne L. Massey, Ingo Helbig, Lucie Delemotte, Tim P. Vogels, Manuel Covarrubias, Ethan M. Goldberg

    出版事項 2024
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  14. 14
    Molecular and cellular context influences SCN8A variant function

    Molecular and cellular context influences SCN8A variant function 著者: Carlos G. Vanoye, Т. В. Абрамова, Jean‐Marc DeKeyser, Nora F. Ghabra, Madeleine J. Oudin, Christopher B. Burge, Ingo Helbig, Christopher H. Thompson, Alfred L. George

    出版事項 2024
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  15. 15
    Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study

    Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study 著者: Jillian L. McKee, Michael C. Kaufman, Alexander K. Gonzalez, Mark P. Fitzgerald, Shavonne L. Massey, France W. Fung, Sudha Kilaru Kessler, Stephanie Witzman, Nicholas S. Abend, Ingo Helbig

    出版事項 2023
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  16. 16
    Mutations in <i>SCN3A</i> cause early infantile epileptic encephalopathy

    Mutations in <i>SCN3A</i> cause early infantile epileptic encephalopathy 著者: Tariq Zaman, Ingo Helbig, Ivana Babič Božović, Suzanne D. DeBrosse, A. Christina Bergqvist, Kimberly Wallis, Līvija Medne, Aleš Maver, Borut Peterlin, Katherine L. Helbig, Xiaohong Zhang, Ethan M. Goldberg

    出版事項 2018
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  17. 17
    Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

    Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress 著者: Juliet K. Knowles, Ingo Helbig, Cameron S. Metcalf, Laura S. Lubbers, Lori L. Isom, Scott Demarest, Ethan M. Goldberg, Alfred L. George, Holger Lerche, Sarah Weckhuysen, Vicky Whittemore, Samuel F. Berkovic, Daniel H. Lowenstein

    出版事項 2022
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  18. 18
    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing 著者: Daniel Daniš, Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Chris Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson

    出版事項 2022
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  19. 19
    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy 著者: Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Kajia Cao, Holly Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan M. Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun

    出版事項 2019
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  20. 20
    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity 著者: Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

    出版事項 2022
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:

検索ツール: