Works matching IS 03645134 AND DT 2017 AND VI 82 AND IP 6


Results: 26
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    Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

    Published in:
    2017
    By:
    • Maas, Roeltje R.;
    • Iwanicka‐Pronicka, Katarzyna;
    • Kalkan Ucar, Sema;
    • Alhaddad, Bader;
    • AlSayed, Moeenaldeen;
    • Al‐Owain, Mohammed A.;
    • Al‐Zaidan, Hamad I.;
    • Balasubramaniam, Shanti;
    • Barić, Ivo;
    • Bubshait, Dalal K.;
    • Burlina, Alberto;
    • Christodoulou, John;
    • Chung, Wendy K.;
    • Colombo, Roberto;
    • Darin, Niklas;
    • Freisinger, Peter;
    • Garcia Silva, Maria Teresa;
    • Grunewald, Stephanie;
    • Haack, Tobias B.;
    • van Hasselt, Peter M.
    Publication type:
    journal article
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    A recessive ataxia diagnosis algorithm for the next generation sequencing era.

    Published in:
    2017
    By:
    • Renaud, Mathilde;
    • Tranchant, Christine;
    • Martin, Juan Vicente Torres;
    • Mochel, Fanny;
    • Synofzik, Matthis;
    • van de Warrenburg, Bart;
    • Pandolfo, Massimo;
    • Koenig, Michel;
    • Kolb, Stefan A.;
    • Anheim, Mathieu;
    • Alonso, Isabel;
    • Azzedine, Hamid;
    • Barbot, Clara;
    • Bereau, Matthieu;
    • Berkovic, Sam;
    • Bernard, Geneviéve;
    • Bindoff, Laurence A.;
    • Bompaire, Flavie;
    • Bonneau, Dominique;
    • Bonneau, Patrizia
    Publication type:
    journal article
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    Issue Information - TOC.

    Published in:
    Annals of Neurology, 2017, v. 82, n. 6, p. n/a, doi. 10.1002/ana.25115
    Publication type:
    Article
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    Natural history of infantile-onset spinal muscular atrophy.

    Published in:
    2017
    By:
    • Kolb, Stephen J.;
    • Coffey, Christopher S.;
    • Yankey, Jon W.;
    • Krosschell, Kristin;
    • Arnold, W. David;
    • Rutkove, Seward B.;
    • Swoboda, Kathryn J.;
    • Reyna, Sandra P.;
    • Sakonju, Ai;
    • Darras, Basil T.;
    • Shell, Richard;
    • Kuntz, Nancy;
    • Castro, Diana;
    • Parsons, Julie;
    • Connolly, Anne M.;
    • Chiriboga, Claudia A.;
    • McDonald, Craig;
    • Burnette, W. Bryan;
    • Werner, Klaus;
    • Thangarajh, Mathula
    Publication type:
    journal article
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