Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis von Chegini, Mitra, Eslami, Maryam, Motavaf, Mahsa, Memarsadeghi, Omid, Hoseini, Azadeh, Torab, Elnaz, Hoseininasab, Fatemeh, Amiri, Hosna, Ramandi, Somayeh, Mostofinezhad, Niusha, Keivani, Fatane, Ghaffari, Saeed Reza, Rafati, Maryam

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Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion) von 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, Shamsian, Bibi Shahin, Shams, Sedigheh, Zamanfar, Daniel, Ebrahimi, Ayoub, Otadi, Ali, Tara, Seyedeh Zahra, Barati, Zeinab, Fakhri, Laya, Hoseini, Azadeh, Amiri, Hosna, Ramandi, Somayeh, Mostofinezhad, Niusha, Kani, Zahra Pahlevani, Mohammadyari, Elham, Khosravi, Mahsa, Saadati, Masoome, Hoseininasab, Fatemeh, Khorram Khorshid, Hamid Reza, Modaberisaber, Younes

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A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia von Rafati, Maryam, Mohamadhashem, Faezeh, Hoseini, Azadeh, Hoseininasab, Fatemeh, RezaGhaffari, Saeed

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Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis von Rafati, Maryam, Tara, Seyedeh Zahra, Hoseininasab, Fatemeh, Ghaffari, Saeed Reza

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Multisystem inflammatory syndrome in children (MIS-C) post-COVID-19 in Iran: clinical profile, cardiac features, and outcomes von Hoseininasab, Ali, Sinaei, Reza, Bagheri, Mohammad Mehdi, Ahmadipour, Maryam, Derakhshan, Reza, Najafzadeh, Mohammad Javad, Robati, Fatemeh Karami, Jafari, Maedeh, Ebrahimi, Sarehossadat, Jafari, Mohammad Ali

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