Search Results - Nada Al-Sheqaih

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis

    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis by Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 by Ilham Ratbi, Kim D. Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Geert Vandeweyer, Jill Urquhart, Kate Chandler, Simon G. Williams, Neil Roberts, Mustapha El Alloussi, Graeme Black, Sacha Ferdinandusse, Hind Ramdi, Audrey Heimler, Alan Fryer, Sally Ann Lynch, Nicola Cooper, Kai Ren Ong, Claire E. L. Smith, C.F. Inglehearn, Alan J. Mighell, Claire Elcock, James A. Poulter, Marc Tischkowitz, Sally Davies, Abdelaziz Sefiani, Mironov Aa, William G. Newman, Hans R. Waterham, Guy Van Camp

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome by Mariella Simon, Élodie M. Richard, Xinjian Wang, Mohsin Shahzad, Vincent Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Dávila, Sabiha Nazli, Saege Hancock, Margret Yu, J. Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G. Newman, José E. Abdenur, Arnold Starr, Rashmi S. Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N. Khan, Ronghua Li, Min‐Xin Guan, Thomas B. Friedman, Doris K. Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C. Wallace, Zubair M. Ahmed, Taosheng Huang, Saima Riazuddin

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: