Výsledky vyhledávání - "Akbar Amirfiroozy"

Akademický článek

Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran

Autor: Akbar Amirfiroozy, Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi

Publikováno v: Case Reports in Clinical Practice, Vol 8, Iss 6 (2024)

So far, different types of SOX5 variants have been reported in patients with LAMSHF syndrome, which are mainly clustered in the HMG domain. The LAMSHF syndrome has a broad variety of clinical manifestations such as developmental delay, speech delay,

Externí odkaz: https://doaj.org/article/3ee4494e47a8455cac6429a9d897ad7f

Zobrazit plný text záznamu

Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population

Autor: Mohsen Toufighi, Alborz Mahdavi, Morteza Naderan, Aliasghar Ahmadraji, Akbar Amirfiroozy, Reza Karkhaneh, Oveis Ahmadzadeh

Publikováno v: Eye (Lond)

OBJECTIVES: To investigate the association of two different single nucleotide polymorphisms (SNPs) in the complement factor H (CFH) gene with central serous chorioretinopathy (CSCR) in the Iranian population. METHODS: This is a case-control study wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb68dbbfdf1a8c7380fad6feaf187066
https://doi.org/10.1038/s41433-021-01579-x

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání