Found: 2

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  • Expanding the molecular and clinical phenotypes of FUT8‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
    By:
    • Ng, Bobby G.;
    • Dastsooz, Hassan;
    • Silawi, Mohammad;
    • Habibzadeh, Parham;
    • Jahan, Shima B.;
    • Fard, Mohammad A. F.;
    • Halliday, Benjamin J.;
    • Raymond, Kimiyo;
    • Ruzhnikov, Maura R. Z.;
    • Tabatabaei, Zahra;
    • Taghipour‐Sheshdeh, Afsaneh;
    • Brimble, Elise;
    • Robertson, Stephen P.;
    • Faghihi, Mohammad A.;
    • Freeze, Hudson H.
    Publication type:
    Article

  • Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

    Published in:
    Human Mutation, 2021, v. 42, n. 1, p. 89, doi. 10.1002/humu.24139
    By:
    • Ain, Noor U.;
    • Muhammad, Niaz;
    • Dianatpour, Mehdi;
    • Baroncelli, Marta;
    • Iqbal, Muddassar;
    • Fard, Mohammad A. F.;
    • Bukhari, Ihtisham;
    • Ahmed, Sufian;
    • Hajipour, Massoumeh;
    • Tabatabaie, Zahra;
    • Foroutan, Hamidreza;
    • Nilsson, Ola;
    • Faghihi, Mohammad A.;
    • Makitie, Outi;
    • Naz, Sadaf
    Publication type:
    Article