Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Mohammadi, Aliasgar, Hoseinzadeh, Marziyeh, Narrei, Sina, Pourreza, Mohammad Reza, Mohammadi, Yousof, Norouzi, Mahnaz, Sadeghian, Ladan, Tabatabaiefar, Mohammad Amin
Published in Egyptian Journal of Medical Human Genetics (14.09.2024)
Published in Egyptian Journal of Medical Human Genetics (14.09.2024)
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Journal Article
Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study
Aghaei, Shahrzad, Parvizpour, Sepideh, Farrokhi, Effat, Molavi, Newsha, Hoseinzadeh, Marziyeh, Tabatabaiefar, Mohammad Amin
Published in Journal of biomolecular structure & dynamics (24.11.2023)
Published in Journal of biomolecular structure & dynamics (24.11.2023)
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Journal Article
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development
Aghaei, Shahrzad, Farrokhi, Effat, saffari-chaleshtori, Javad, Hoseinzadeh, Marziyeh, Molavi, Newsha, Hashemipour, Mahin, Rostampour, Noushin, Asgharzadeh, Samira, Tabatabaiefar, Mohammad Amin
Published in Molecular genetics and genomics : MGG (01.05.2023)
Published in Molecular genetics and genomics : MGG (01.05.2023)
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Journal Article
A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency
Hoseinzadeh, Marziyeh, Molavi, Newsha, Norouzi, Mahnaz, Aghaei, Shahrzad, Zeinalian, Mehrdad, Hashemipour, Mahin, Tabatabaiefar, Mohammad Amin
Published in Laboratory medicine (05.07.2023)
Published in Laboratory medicine (05.07.2023)
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