The promise of whole-exome sequencing in medical genetics von Rabbani, Bahareh, Tekin, Mustafa, Mahdieh, Nejat

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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 von Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders von Rabbani, Bahareh, Mahdieh, Nejat, Hosomichi, Kazuyoshi, Nakaoka, Hirofumi, Inoue, Ituro

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

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Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations von Mahdieh, Nejat, Rabbani, Bahareh, Wiley, Susan, Akbari, Mohammad Taghi, Zeinali, Sirous

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Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants von Rabbani, Bahareh, Moghadam, Mohadeseh Aghli, Esmaeili, Shiva, Rabbani, Amirhassan, Akbari, Bahman, Mahdieh, Nejat

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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene von Maleknejad, Shohreh, Dalili, Setila, Sharifi, Ameneh, Hassanzadeh Rad, Afagh, Bayat, Reza, Rabbani, Bahareh, Mahdieh, Nejat

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

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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants von Didban, Abdolah, Rabbani, Ali, Mahdieh, Nejat, Heshmatzad, Katayoun, Rabbani, Bahareh

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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 von Kavousi, Saeideh, Dalili, Mohammad, Rabbani, Bahareh, Behmanesh, Mehrdad, Noruzinia, Mehrdad, Mahdieh, Nejat

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Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene von Dalili, Setila, Sedighi Pirsaraei, Nasrin, Sharifi, Ameneh, Pouryousef, Alireza, Aghaee, Fatemeh, Bayat, Reza, Ghavami, Babak, Rabbani, Bahareh, Mahdieh, Nejat

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Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency von Mahdieh, Nejat, Rabbani, Bahareh

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

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In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations von Rabbani, Bahareh, Mahdieh, Nejat, Haghi Ashtiani, Mohammad Taghi, Setoodeh, Aria, Rabbani, Ali

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A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene von Nikasa, Parisa, Rabbani, Bahareh, Hejazi, Mohammad Saeid, Firouzi, Ata, Baharvand, Hossein, Totonchi, Mehdi, Mahdieh, Nejat

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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche von Rabbani, Ali, Bose, Himangshu S., Abbasi, Farzaneh, Sayarifard, Fatemeh, Setoodeh, Aria, Mahdieh, Nejat, Soveizi, Mahdieh, Rabbani, Bahareh

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

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Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East von Mahdieh, Nejat, Rabbani, Bahareh

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Screening of OTOF mutations in Iran: A novel mutation and review von Mahdieh, Nejat, Shirkavand, Atefeh, Rabbani, Bahareh, Tekin, Mustafa, Akbari, Bahman, Akbari, Mohammad Taghi, Zeinali, Sirous

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A systematic review of LDLR, PCSK9, and APOB variants in Asia von Mahdieh, Nejat, Heshmatzad, Katayoun, Rabbani, Bahareh

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