检索结果 - Dina Marek‐Yagel

  • Showing 1 - 10 results of 10
Refine Results
  1. 1
    A Novel Mutation in the <i>HCN4</i> Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews

    A Novel Mutation in the <i>HCN4</i> Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews 由 Avishag Laish‐Farkash, Michael Glikson, Dovrat Brass, Dina Marek‐Yagel, Elon Pras, Nathan Dascal, Charles Antzelevitch, Eyal Nof, HAYA REZNIK, Michael Eldar, David Luria

    出版 2010
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations 由 Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri‐Chen, Ben Pode‐Shakked, Sina Mazaheri, Dina Marek‐Yagel, Ortal Barel, Ayelet Di Segni, Eran Eyal, Goni Hout‐Siloni, Avishay Lahad, Tzippora Shalem, Gideon Rechavi, May Christine V. Malicdan, Batia Weiss, William A. Gahl, Yair Anikster

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency 由 May Christine V. Malicdan, Thierry Vilboux, Bruria Ben‐Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode‐Shakked, Amir Dori, Sravan Kakani, Settara C. Chandrasekharappa, Carlos R. Ferreira, Natalia Shelestovich, Dina Marek‐Yagel, Hadass Pri‐Chen, Ilan Blatt, John E. Niederhuber, Langping He, Camilo Toro, Robert W. Taylor, John F. Deeken, Tal Yardeni, Douglas C. Wallace, William A. Gahl, Yair Anikster

    出版 2017
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios 由 Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, K. Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek‐Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong‐hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy 由 Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, Tom Walsh, Judith Barash, Shai Padeh, Abraham Zlotogorski, Yackov Berkun, Joseph J. Press, M Mukamel, Isabel Voth, Philip J. Hashkes, Liora Harel, Vered Hoffer, Eduard Ling, Fatoş Yalçınkaya, Özgür Kasapçopur, Ming K. Lee, Rachel E. Klevit, Paul Renbaum, Ariella Weinberg‐Shukron, Elif Funda Şener, Barbara Schormair, Sharon Zeligson, Dina Marek‐Yagel, Tim M. Strom, Mordechai Shohat, Amihood Singer, Alan Rubinow, Elon Pras, Juliane Winkelmann, Mustafa Tekin, Yair Anikster, Mary‐Claire King, Ephrat Levy‐Lahad

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy 由 Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev, Judith Kandel, Hadass Pri‐Chen, Joshi Stephen, Inês Gomes Castro, Jeremy Metz, Osama Atawa, Sharon Moshkovitz, Esther Ganelin, Iris Barshack, Sylvie Polak‐Charcon, Dvora Nass, Dina Marek‐Yagel, Ninette Amariglio, Nechama Shalva, Thierry Vilboux, Carlos R. Ferreira, Ben Pode‐Shakked, Gali Heimer, Chen Hoffmann, Tal Yardeni, Andreea Nissenkorn, Camila Avivi, Eran Eyal, Nitzan Kol, Efrat G. Saar, Douglas C. Wallace, William A. Gahl, Gideon Rechavi, Michael Schrader, David M. Eckmann, Yair Anikster

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 由 Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek‐Yagel, Anna Sárközy, Russell J. Butterfield, Cristina Jou, C. Jimenez‐Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bönnemann

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy 由 Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode‐Shakked, Dina Marek‐Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov‐Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alexander Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias C. Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability 由 Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Thomas Meißner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel, Aurora Martı́nez, Edward L. Huttlin, João A. Paulo, Riccardo Berutti, Jean‐François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval E. Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff

    出版 2017
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder 由 Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: