Works matching IS 00068950 AND DT 2019 AND VI 142 AND IP 1


Results: 60
    1

    Editorial.

    Published in:
    2019
    By:
    • Rowe, James
    Publication type:
    Editorial
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    Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

    Published in:
    2019
    By:
    • Fagerberg, Christina R;
    • Taylor, Adrian;
    • Distelmaier, Felix;
    • Schrøder, Henrik D;
    • Kibæk, Maria;
    • Wieczorek, Dagmar;
    • Tarnopolsky, Mark;
    • Brady, Lauren;
    • Larsen, Martin J;
    • Jamra, Rami A;
    • Seibt, Annette;
    • Hejbøl, Eva Kildall;
    • Gade, Else;
    • Markovic, Ljubo;
    • Klee, Dirk;
    • Nagy, Peter;
    • Rouse, Nicholas;
    • Agarwal, Prasoon;
    • Dolinsky, Vernon W;
    • Bakovic, Marica
    Publication type:
    journal article
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    The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.

    Published in:
    2019
    By:
    • Bongaarts, Anika;
    • van Scheppingen, Jackelien;
    • Korotkov, Anatoly;
    • Mijnsbergen, Caroline;
    • Anink, Jasper J;
    • Jansen, Floor E;
    • Spliet, Wim G M;
    • den Dunnen, Wilfred F A;
    • Gruber, Victoria E;
    • Scholl, Theresa;
    • Samueli, Sharon;
    • Hainfellner, Johannes A;
    • Feucht, Martha;
    • Kotulska, Katarzyna;
    • Jozwiak, Sergiusz;
    • Grajkowska, Wieslawa;
    • Buccoliero, Anna Maria;
    • Caporalini, Chiara;
    • Giordano, Flavio;
    • Genitori, Lorenzo
    Publication type:
    journal article
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    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

    Published in:
    2019
    By:
    • Van Bergen, Nicole J;
    • Guo, Yiran;
    • Al-Deri, Noraldin;
    • Lipatova, Zhanna;
    • Stanga, Daniela;
    • Zhao, Sarah;
    • Murtazina, Rakhilya;
    • Gyurkovska, Valeriya;
    • Pehlivan, Davut;
    • Mitani, Tadahiro;
    • Gezdirici, Alper;
    • Antony, Jayne;
    • Collins, Felicity;
    • Willis, Mary J H;
    • Coban Akdemir, Zeynep H;
    • Liu, Pengfei;
    • Punetha, Jaya;
    • Hunter, Jill V;
    • Jhangiani, Shalini N;
    • Fatih, Jawid M
    Publication type:
    journal article
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    Corrigendum.

    Published in:
    2019
    Publication type:
    journal article
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    GRIN2A-related disorders: genotype and functional consequence predict phenotype.

    Published in:
    2019
    By:
    • Strehlow, Vincent;
    • Heyne, Henrike O;
    • Vlaskamp, Danique R M;
    • Marwick, Katie F M;
    • Rudolf, Gabrielle;
    • Bellescize, Julitta de;
    • Biskup, Saskia;
    • Brilstra, Eva H;
    • Brouwer, Oebele F;
    • Callenbach, Petra M C;
    • Hentschel, Julia;
    • Hirsch, Edouard;
    • Kind, Peter C;
    • Mignot, Cyril;
    • Platzer, Konrad;
    • Rump, Patrick;
    • Skehel, Paul A;
    • Wyllie, David J A;
    • Hardingham, Giles E;
    • Ravenswaaij-Arts, Conny M A van
    Publication type:
    journal article
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    Erratum.

    Published in:
    2019
    Publication type:
    journal article
    41

    Editorial.

    Published in:
    2019
    By:
    • Kullmann, Dimitri M
    Publication type:
    Editorial
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