Výsledky vyhledávání - "Amir Hosein Mahmoudi"

Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

Autor: Nioosha Mostofinezhad, Saeed Reza Ghaffari, Zeinab Barati, Laya Fakhri, Fatemeh Hoseininasab, Faezeh Mohamadhashem, Azadeh Hoseini, Amir Hosein Mahmoudi, Somayeh Darzi Ramandi, Koosha Jalilian, Maryam Rafati, Hosna Amiri

Publikováno v: Ophthalmic Genetics. 43:262-267

BACKGROUND Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bf2d57fb2c292793b7d4c075697aec4c
https://doi.org/10.1080/13816810.2021.2002915

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Identification of a novel de novo variant in

Autor: Maryam, Rafati, Faezeh, Mohamadhashem, Koosha, Jalilian, Fatemeh, Hoseininasab, Laya, Fakhri, Azadeh, Hoseini, Hosna, Amiri, Zeinab, Barati, Somayeh, Darzi Ramandi, Nioosha, Mostofinezhad, Amir Hosein, Mahmoudi, Saeed Reza, Ghaffari

Publikováno v: Ophthalmic genetics. 43(2)

Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with colo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1848d75f0961dd0c272abef6047ad21a
https://pubmed.ncbi.nlm.nih.gov/34791963

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