TCAP gene is not a common cause of cardiomyopathy in Iranian patients by Zahra Alaei, Nasrin Zamani, Bahareh Rabbani, Nejat Mahdieh

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P505: Hypertriglyceridemia: Pancreatitis as a common feature of APOC2 chain-termination variants by Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani

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A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male by Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh

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A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study by Saeideh Kavousi, Mohammad Dalili, Bahareh Rabbani, Mehrdad Behmanesh, Mehrdad Noruzinia, Nejat Mahdieh

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P506: An integrative view of COLQ-related congenital myasthenic syndrome by Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai

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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants by Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani

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Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche by Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, Bahareh Rabbani, Mansoor Salehi, Ali Rabbani, Arman Ansari, Mona Mobalegh Naseri

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