Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Shi-Qin Yuan"'
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. He
Externí odkaz:
https://doaj.org/article/65fcf4e61779409abe5e5c34a95f21af
Publikováno v:
International Journal of Ophthalmology, Vol 14, Iss 4, Pp 504-509 (2021)
AIM: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Thirteen patients with BPES and eight healthy family members were included in
Externí odkaz:
https://doaj.org/article/bcf0cbe26e9f4320ac06c243c42176f5
Publikováno v:
International Journal of Ophthalmology, Vol 13, Iss 8, Pp 1306-1311 (2020)
AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected
Externí odkaz:
https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f
Publikováno v:
Int J Ophthalmol
International Journal of Ophthalmology, Vol 13, Iss 8, Pp 1306-1311 (2020)
International Journal of Ophthalmology, Vol 13, Iss 8, Pp 1306-1311 (2020)
Aim To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. Methods Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd571287738677c2f4135e519dbaf5e8
https://europepmc.org/articles/PMC7387896/
https://europepmc.org/articles/PMC7387896/
