A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

por Ajam-Hosseini, Mobarakeh, Parvini, Farshid, Angaji, Abdolhamid
Publicado 2023

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

por Fahimi, Hossein, Behroozi, Samira, Noavar, Sadaf, Parvini, Farshid
Publicado 2021

Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma

por Fakhraie, Ghasem, Parvini, Farshid, Ghanavi, Jalaledin, Saif, Shima, Farnia, Poopak
Publicado 2020

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

por Noavar, Sadaf, Behroozi, Samira, Tatarcheh, Taraneh, Parvini, Farshid, Foroutan, Majid, Fahimi, Hossein
Publicado 2019

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

por Karimi, Amir Hossein, Karimi, Mohammad Reza, Farnia, Poopak, Parvini, Farshid, Foroutan, Majid
Publicado 2020