Works matching AU Galehdari, Hamid


Results: 127
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    Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264
    By:
    • Becker, Aurélie;
    • Felici, Charlotte;
    • Lambert, Laëtitia;
    • de Saint Martin, Anne;
    • Abi‐Warde, Marie‐Thérèse;
    • Schaefer, Elise;
    • Zix, Christian;
    • Zamani, Mina;
    • Sadeghian, Saeid;
    • Zeighami, Jawaher;
    • Seifi, Tahereh;
    • Azizimalamiri, Reza;
    • Shariati, Gholamreza;
    • Galehdari, Hamid;
    • Selig, Mareike;
    • Ding, Can;
    • Duerinckx, Sarah;
    • Pirson, Isabelle;
    • Abramowicz, Marc;
    • Clément, Guillemette
    Publication type:
    Article
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    Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44987-6
    By:
    • Jones, Edward G.;
    • Mazaheri, Neda;
    • Maroofian, Reza;
    • Zamani, Mina;
    • Seifi, Tahereh;
    • Sedaghat, Alireza;
    • Shariati, Gholamreza;
    • Jamshidi, Yalda;
    • Allen, Hugh D.;
    • Wehrens, Xander H. T.;
    • Galehdari, Hamid;
    • Landstrom, Andrew P.
    Publication type:
    Article