Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review von 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

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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 von 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

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Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome von Norouzi Rostami, Fatemeh, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Tehrani Fateh, Sahand, Mirfakhraie, Reza, Karimzadeh, Parvaneh, Davarpanah, Milad, Jamshidi, Sanaz, Madannejad, Rasoul, Moghimi, Parinaz, Ekrami, Mahdis, Miryounesi, Mohammad, Ghasemi, Mohammad-Reza

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The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum von Shokrollahi, Nima, Tehrani Fateh, Sahand, Nouri, Mohammad, Behnam, Amirmohammad, Moghimi, Parinaz, Sadeghi, Hossein, Mirfakhraie, Reza, Roudgari, Hassan, Jamshidi, Sanaz, Miryounesi, Mohammad, Ghasemi, Mohammad-Reza

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Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort von Moghimi, Parinaz, Hashemi-Gorji, Farzad, Jamshidi, Sanaz, Tehrani Fateh, Sahand, Salehpour, Shadab, Sadeghi, Hossein, Norouzi Rostami, Fatemeh, Mirfakhraie, Reza, Miryounesi, Mohammad, Ghasemi, Mohammad-Reza

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