Works matching AU Mirfakhraie, Reza


Results: 97
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    Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG).

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63963
    By:
    • Ghasemi, Mohammad‐Reza;
    • Fateh, Sahand Tehrani;
    • Ben‐Mahmoud, Afif;
    • Gupta, Vijay;
    • Stühn, Lara G.;
    • Lesca, Gaetan;
    • Chatron, Nicolas;
    • Platzer, Konrad;
    • Edery, Patrick;
    • Sadeghi, Hossein;
    • Isidor, Bertrand;
    • Cogné, Benjamin;
    • Schulz, Heidi L.;
    • Krauspe‐Stübecke, Ilona;
    • Periyasamy, Radhakrishnan;
    • Nampoothiri, Sheela;
    • Mirfakhraie, Reza;
    • Alijanpour, Sahar;
    • Syrbe, Steffen;
    • Pfeifer, Ulrich
    Publication type:
    Article
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    Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.

    Published in:
    Neurological Sciences, 2023, v. 44, n. 12, p. 4491, doi. 10.1007/s10072-023-06960-0
    By:
    • Tehrani Fateh, Sahand;
    • Bagheri, Saman;
    • Sadeghi, Hossein;
    • Salehpour, Shadab;
    • Fazeli Bavandpour, Fatemehsadat;
    • Sadeghi, Behnia;
    • Jamshidi, Sanaz;
    • Tonekaboni, Seyed Hassan;
    • Mirfakhraie, Reza;
    • Miryounesi, Mohammad;
    • Ghasemi, Mohammad-Reza
    Publication type:
    Article
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    The expression analysis of LATS2 gene in de novo AML patients.

    Published in:
    Medical Oncology, 2014, v. 31, n. 5, p. 1, doi. 10.1007/s12032-014-0961-0
    By:
    • Gholami, Milad;
    • Mirfakhraie, Reza;
    • Movafagh, Abolfazl;
    • Jalaeekhoo, Hasan;
    • Kalahroodi, Ramezanali;
    • Zare-Abdollahi, Davood;
    • Zare-Karizi, Shohreh
    Publication type:
    Article
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    Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

    Published in:
    BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01810-0
    By:
    • Ghasemi, Mohammad-Reza;
    • Tehrani Fateh, Sahand;
    • Moeinafshar, Aysan;
    • Sadeghi, Hossein;
    • Karimzadeh, Parvaneh;
    • Mirfakhraie, Reza;
    • Rezaei, Mitra;
    • Hashemi-Gorji, Farzad;
    • Rezvani Kashani, Morteza;
    • Fazeli Bavandpour, Fatemehsadat;
    • Bagheri, Saman;
    • Moghimi, Parinaz;
    • Rostami, Masoumeh;
    • Madannejad, Rasoul;
    • Roudgari, Hassan;
    • Miryounesi, Mohammad
    Publication type:
    Article
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    Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

    Published in:
    BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01798-7
    By:
    • Tehrani Fateh, Sahand;
    • Mohammad Zadeh, Nadia;
    • Salehpour, Shadab;
    • Hashemi-Gorji, Farzad;
    • Omidi, Ashkan;
    • Sadeghi, Hossein;
    • Mirfakhraie, Reza;
    • Moghimi, Parinaz;
    • Keyvanfar, Sepideh;
    • Mohammadi Sarvaleh, Sepideh;
    • Miryounesi, Mohammad;
    • Ghasemi, Mohammad-Reza
    Publication type:
    Article
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