Hasil Pencarian - Hagar Mor-Shaked

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  1. 1
    Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome

    Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome oleh Hagar Mor-Shaked, Hagar Mor-Shaked, Rachel Eiges, Rachel Eiges

    Diterbitkan 2018-02-01
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  2. 2
    The Clinical Aspect of Adaptor Molecules in T Cell Signaling: Lessons Learnt From Inborn Errors of Immunity

    The Clinical Aspect of Adaptor Molecules in T Cell Signaling: Lessons Learnt From Inborn Errors of Immunity oleh Yael Dinur-Schejter, Yael Dinur-Schejter, Yael Dinur-Schejter, Irina Zaidman, Irina Zaidman, Hagar Mor-Shaked, Hagar Mor-Shaked, Polina Stepensky, Polina Stepensky

    Diterbitkan 2021-08-01
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  3. 3
    Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

    Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease. oleh Raphael Trefzer, Orly Elpeleg, Tatyana Gabrusskaya, Polina Stepensky, Hagar Mor-Shaked, Robert Grosse, Dominique T Brandt

    Diterbitkan 2021-01-01
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  4. 4
    FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

    FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells oleh Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges

    Diterbitkan 2014-11-01
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  5. 5
    Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

    Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia oleh Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer

    Diterbitkan 2020-12-01
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  6. 6
    Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

    Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia oleh Giorgia Dinoi, Michael Morin, Elena Conte, Hagar Mor Shaked, Maria Antonietta Coppola, Maria Cristina D’Adamo, Orly Elpeleg, Antonella Liantonio, Inbar Hartmann, Annamaria De Luca, Rikard Blunck, Angelo Russo, Paola Imbrici

    Diterbitkan 2022-07-01
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  7. 7
    A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

    A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System oleh Shir Confino, Talya Dor, Adi Tovin, Yair Wexler, Zohar Ben-Moshe Livne, Michaela Kolker, Odelia Pisanty, Sohyun Kathy Park, Nathalie Geyer, Joel Reiter, Shimon Edvardson, Hagar Mor-Shaked, Orly Elpeleg, Daniela Vallone, Lior Appelbaum, Nicholas S. Foulkes, Yoav Gothilf

    Diterbitkan 2022-02-01
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  8. 8
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy oleh Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

    Diterbitkan 2020-01-01
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