Výsledky vyhledávání - "Khazeema Yousaf"

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma

Autor: Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth Wohler, Nara Sobreira, Bo-Man Ho, Li-Jia Chen, Wai-Kit Chu, Rasheeda Bashir

Publikováno v: Genes
Volume 14
Issue 2
Pages: 310

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8ba92bef0848ee042ac94ebc4069d5
https://doi.org/10.3390/genes14020310

Zobrazit plný text záznamu

The Immunoinformatic, Structural elucidation of ULBP2 Protein in the therapeutics of Tumorigenesis: Using Bioinformatics Approaches

Autor: Muhammad Mazhar Fareed, Khazeema Yousaf, Muhammad Salman Akber, Muhammad Mohsin Ali

The Natural killer (NK) cells' ability to destroy cancerous cells is predominantly focused on the activation of the co-stimulatory and natural killer group two with receptor of member-D also called NKGD2/NKG2D. These identifies ligands that are MHC-C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beeefbc595e6fd2e327b82bbf6bdb62

Zobrazit plný text záznamu

Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families

Autor: Rasheeda, Bashir, Khazeema, Yousaf, Hafsa, Tahir, Marukh, Sanai, Seema, Qayyum, Shagufta, Naz, Sadaf, Naz

Publikováno v: JPMA. The Journal of the Pakistan Medical Association. 68(8)

To explore the spectrum of Cytochrome P450 1B1 gene variants and genotype-phenotype correlations in families affected with primary congenital glaucoma.The cross-sectional study was performed at the Department of Biotechnology, Lahore College for Wome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::39ba729212666280d54291a099a3b947
https://pubmed.ncbi.nlm.nih.gov/30108387

Zobrazit plný text záznamu

Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma

Autor: Khazeema Yousaf, Sadaf Naz, Rasheeda Bashir, Shagufta Naz, Hafsa Tahir

Publikováno v: Gene. 570(2)

Glaucoma is one of the primary causes of visual impairment and blindness in the world. It is characterized by the damage to the optic nerve head and visual field loss. Variants in CYP1B1 are the most common cause of glaucoma in different world popula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b64cbe51be8a7575076001abffd3a9d
https://pubmed.ncbi.nlm.nih.gov/26164761

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání