Works matching IS 00068950 AND DT 2016 AND VI 139 AND IP 11


Results: 31
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    Corrigendum.

    Published in:
    2016
    Publication type:
    journal article
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    ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

    Published in:
    2016
    By:
    • Mignot, Cyril;
    • Moutard, Marie-Laure;
    • Rastetter, Agnès;
    • Boutaud, Lucile;
    • Heide, Solveig;
    • Billette, Thierry;
    • Doummar, Diane;
    • Garel, Catherine;
    • Afenjar, Alexandra;
    • Jacquette, Aurélia;
    • Lacombe, Didier;
    • Verloes, Alain;
    • Bole-Feysot, Christine;
    • Nitschké, Patrick;
    • Masson, Cécile;
    • Faudet, Anne;
    • Lesne, Fabien;
    • Bienvenu, Thierry;
    • Alby, Caroline;
    • Attié-Bitach, Tania
    Publication type:
    journal article
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    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

    Published in:
    2016
    By:
    • Jijun Wan;
    • Steffen, Janos;
    • Yourshaw, Michael;
    • Mamsa, Hafsa;
    • Andersen, Erik;
    • Rudnik-Schöneborn, Sabine;
    • Pope, Kate;
    • Howell, Katherine B.;
    • McLean, Catriona A.;
    • Kornberg, Andrew J.;
    • Joseph, Jörg;
    • Lockhart, Paul J.;
    • Zerres, Klaus;
    • Ryan, Monique M.;
    • Nelson, Stanley F.;
    • Koehler, Carla M.;
    • Jen, Joanna C.;
    • Wan, Jijun
    Publication type:
    journal article
    23

    The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

    Published in:
    2016
    By:
    • de la Barca, Juan Manuel Chao;
    • Simard, Gilles;
    • Amati-Bonneau, Patrizia;
    • Safiedeen, Zainab;
    • Prunier-Mirebeau, Delphine;
    • Chupin, Stéphanie;
    • Gadras, Cédric;
    • Tessier, Lydie;
    • Gueguen, Naïg;
    • Chevrollier, Arnaud;
    • Desquiret-Dumas, Valérie;
    • Ferré, Marc;
    • Bris, Céline;
    • Nzoughet, Judith Kouassi;
    • Bocca, Cinzia;
    • Leruez, Stéphanie;
    • Verny, Christophe;
    • Miléa, Dan;
    • Bonneau, Dominique;
    • Lenaers, Guy
    Publication type:
    journal article
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    Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

    Published in:
    2016
    By:
    • Stam, Anine H.;
    • Kothari, Parul H.;
    • Shaikh, Aisha;
    • Gschwendter, Andreas;
    • Jen, Joanna C.;
    • Hodgkinson, Suzanne;
    • Hardy, Todd A.;
    • Hayes, Michael;
    • Kempster, Peter A.;
    • Kotschet, Katya E.;
    • Bajema, Ingeborg M.;
    • van Duinen, Sjoerd G.;
    • Maat-Schieman, Marion L. C.;
    • de Jong, Paulus T. V. M.;
    • de Smet, Marc D.;
    • de Wolff-Rouendaal, Didi;
    • Dijkman, Greet;
    • Pelzer, Nadine;
    • Kolar, Grant R.;
    • Schmidt, Robert E.
    Publication type:
    journal article
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    Editorial.

    Published in:
    2016
    By:
    • Kullmann, Dimitri M.
    Publication type:
    journal article