Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients by Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard

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Overview of genetic variants in a cohort of Iranian patients with leukodystrophy by Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard

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An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 by Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh

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A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies by Sheyda Khalilian, Mohadeseh Fathi, Raheleh Tangestani, Pegah Larki, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi

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Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study by Sheyda Khalilian, Mohadeseh Fathi, Sanaz Jamshidi, Rasoul Madannejad, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi

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Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review by Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

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