Works matching DE "COFFIN-Lowry syndrome"


Results: 17
    1

    RSK2 Is a Modulator of Craniofacial Development.

    Published in:
    PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084343
    By:
    • Laugel-Haushalter, Virginie;
    • Paschaki, Marie;
    • Marangoni, Pauline;
    • Pilgram, Coralie;
    • Langer, Arnaud;
    • Kuntz, Thibaut;
    • Demassue, Julie;
    • Morkmued, Supawich;
    • Choquet, Philippe;
    • Constantinesco, André;
    • Bornert, Fabien;
    • Schmittbuhl, Matthieu;
    • Pannetier, Solange;
    • Viriot, Laurent;
    • Hanauer, André;
    • Dollé, Pascal;
    • Bloch-Zupan, Agnès
    Publication type:
    Article
    2
    3
    4
    5

    Coffin-Siris syndrome is a SWI/ SNF complex disorder.

    Published in:
    Clinical Genetics, 2014, v. 85, n. 6, p. 548, doi. 10.1111/cge.12225
    By:
    • Tsurusaki, Y.;
    • Okamoto, N.;
    • Ohashi, H.;
    • Mizuno, S.;
    • Matsumoto, N.;
    • Makita, Y.;
    • Fukuda, M.;
    • Isidor, B.;
    • Perrier, J.;
    • Aggarwal, S.;
    • Dalal, A.B.;
    • Al‐Kindy, A.;
    • Liebelt, J.;
    • Mowat, D.;
    • Nakashima, M.;
    • Saitsu, H.;
    • Miyake, N.
    Publication type:
    Article
    6
    7
    8
    9
    10
    11

    Coffin-Lowry Syndrome (CLS).

    Published in:
    Dialog: Journal of the Texas Educational Diagnosticians Association, 2015, v. 44, n. 2, p. 21
    By:
    • Hausman, Ralph M.;
    • Sorgi, Rachel F.
    Publication type:
    Article
    12

    Rsk2 Knockout Affects Emotional Behavior in the IntelliCage.

    Published in:
    Behavior Genetics, 2017, v. 47, n. 4, p. 434, doi. 10.1007/s10519-017-9853-3
    By:
    • Lesch, Klaus-Peter;
    • Fischer, Matthias;
    • Cabello, Victoria;
    • Hommers, Leif;
    • Deckert, Jürgen;
    • Schmitt-Böhrer, Angelika;
    • Popp, Sandy;
    • Krackow, Sven
    Publication type:
    Article
    13
    14
    15

    Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
    By:
    • Bramswig, Nuria;
    • Lüdecke, Hermann-Josef;
    • Alanay, Yasemin;
    • Albrecht, Beate;
    • Barthelmie, Alexander;
    • Boduroglu, Koray;
    • Braunholz, Diana;
    • Caliebe, Almuth;
    • Chrzanowska, Krystyna;
    • Czeschik, Johanna;
    • Endele, Sabine;
    • Graf, Elisabeth;
    • Guillén-Navarro, Encarna;
    • Kiper, Pelin;
    • López-González, Vanesa;
    • Parenti, Ilaria;
    • Pozojevic, Jelena;
    • Utine, Gulen;
    • Wieland, Thomas;
    • Kaiser, Frank
    Publication type:
    Article
    16
    17

    Neonatal Hyperekplexia.

    Published in:
    Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201
    By:
    • Tanigasalam, Vasanthan
    Publication type:
    Article