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  1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    Article • EBioMedicine, September 2024, Elsevier

    Reza maroofian

  2. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

    Article • Clinical Genetics, August 2022, Wiley

    Reza maroofian, Professor Vajira H. W. Dissanayake