Works matching AU Kampe, Kapil


Results: 7
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    Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098
    By:
    • Riedhammer, Korbinian M;
    • Burgemeister, Anna L;
    • Cantagrel, Vincent;
    • Amiel, Jeanne;
    • Siquier-Pernet, Karine;
    • Boddaert, Nathalie;
    • Hertecant, Jozef;
    • Kannouche, Patricia L;
    • Pouvelle, Caroline;
    • Htun, Stephanie;
    • Slavotinek, Anne M;
    • Beetz, Christian;
    • Diego-Alvarez, Dan;
    • Kampe, Kapil;
    • Fleischer, Nicole;
    • Awamleh, Zain;
    • Weksberg, Rosanna;
    • Kopajtich, Robert;
    • Meitinger, Thomas;
    • Suleiman, Jehan
    Publication type:
    Article
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    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article