Works by Rafati, Maryam


Results: 18
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    Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328
    By:
    • Ghaffari, Saeed R.;
    • Rafati, Maryam;
    • Shadnoush, Mahdi;
    • Pourbabaee, Shokooh;
    • Aghighi, Mohammad;
    • Mirab Samiee, Siamak;
    • Kermanchi, Jamshid;
    • Alaei, Mohammad R.;
    • Salehpour, Shadab;
    • Amirkashani, Davoud;
    • Setoodeh, Aria;
    • Sarkhail, Peymaneh;
    • Badv, Reza Shervin;
    • Aminzadeh, Majid;
    • Shiva, Siamak;
    • Eshraghi, Peyman;
    • Moravej, Hossein;
    • Hashemipour, Mahin;
    • Rostampour, Noushin;
    • Hamidieh, َAmir Ali
    Publication type:
    Article
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    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.

    Published in:
    PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
    By:
    • Eisenberger, Tobias;
    • Neuhaus, Christine;
    • Khan, Arif O.;
    • Decker, Christian;
    • Preising, Markus N.;
    • Friedburg, Christoph;
    • Bieg, Anika;
    • Gliem, Martin;
    • Issa, Peter Charbel;
    • Holz, Frank G.;
    • Baig, Shahid M.;
    • Hellenbroich, Yorck;
    • Galvez, Alberto;
    • Platzer, Konrad;
    • Wollnik, Bernd;
    • Laddach, Nadja;
    • Ghaffari, Saeed Reza;
    • Rafati, Maryam;
    • Botzenhart, Elke;
    • Tinschert, Sigrid
    Publication type:
    Article
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    Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.

    Published in:
    Ophthalmic Genetics, 2022, v. 43, n. 2, p. 262, doi. 10.1080/13816810.2021.2002915
    By:
    • Rafati, Maryam;
    • Mohamadhashem, Faezeh;
    • Jalilian, Koosha;
    • Hoseininasab, Fatemeh;
    • Fakhri, Laya;
    • Hoseini, Azadeh;
    • Amiri, Hosna;
    • Barati, Zeinab;
    • Darzi Ramandi, Somayeh;
    • Mostofinezhad, Nioosha;
    • Mahmoudi, Amir Hosein;
    • Ghaffari, Saeed Reza
    Publication type:
    Article
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