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Dr. Sabika Firasat
Dr. Sabika Firasat
在 qau.edu.pk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Null mutations in LTBP2 cause primary congenital glaucoma
M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ...
The American Journal of Human Genetics 84 (5), 664-671, 2009
3562009
Primary congenital glaucoma localizes to chromosome 14q24. 2-24.3 in two consanguineous Pakistani families
S Firasat, SA Riazuddin, JF Hejtmancik, S Riazuddin
Molecular vision 14, 1659, 2008
562008
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma
S Firasat, SA Riazuddin, SN Khan, S Riazuddin
Molecular vision 14, 2002, 2008
352008
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
B Rauf, B Irum, F Kabir, S Firasat, MA Naeem, SN Khan, T Husnain, ...
Human genome variation 3 (1), 1-4, 2016
332016
Association of interleukin 10 (IL-10) gene with type 2 diabetes mellitus by single nucleotide polymorphism of its promotor region G/A 1082
S Naz, N Shafique, S Sharif, F Manzoor, SZ Safi, S Firasat, H Kaul
Critical Reviews™ in Eukaryotic Gene Expression 30 (4), 2020
252020
Advances in endothelial shear stress proteomics
S Firasat, M Hecker, L Binder, AR Asif
Expert review of proteomics 11 (5), 611-619, 2014
192014
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3 …
R Afzal, S Firasat, H Kaul, B Ahmed, SN Siddiqui, SN Zafar, M Shahzadi, ...
Congenital anomalies 59 (5), 152-161, 2019
162019
Prevalence and risk factors associated with intestinal parasitic infections among schoolchildren in Punjab, Pakistan.
S Kosar, K Afshan, M Salman, SSR Rizvi, AA Naseem, S Firasat, S Jahan, ...
162017
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma
S Firasat, H Kaul, UA Ashfaq, S Idrees
International ophthalmology 38, 807-814, 2018
132018
Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
B Gul, S Firasat, R Tehreem, T Shan, K Afshan
Plos one 17 (6), e0269833, 2022
112022
Seroepidemiology of human fascioliasis and its relationship with anti-Fasciola IgG and liver enzymes as biomarkers of pathogenicity
K Afshan, S Kabeer, S Firasat, S Jahan, M Qayyum
African Health Sciences 20 (1), 208-218, 2020
102020
Morphological and Molecular Identification of Paramphistomum epiclitum from Buffaloes in Pakistan
I Khan, K Afshan, S Shah, S Akhtar, M Komal, S Firasat
Acta Parasitologica 65, 225-236, 2020
102020
Molecular confirmation of Dicrocoelium dendriticum in the Himalayan ranges of Pakistan
MA Khan, K Afshan, M Nazar, S Firasat, U Chaudhry, ND Sargison
Parasitology international 81, 102276, 2021
92021
Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations
M Shahid, S Firasat, HS Satti, TM Satti, T Ghafoor, I Sharif, K Afshan
Congenital Anomalies 60 (1), 32-39, 2020
92020
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma
R Tehreem, A Arooj, SN Siddiqui, S Naz, K Afshan, S Firasat
PloS one 17 (9), e0274335, 2022
72022
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families
S Firasat, WA Khan, U Sughra, Nousheen, H Kaul, S Naz, B Noreen, ...
Molecular Biology Reports 48, 7467-7476, 2021
72021
Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24. 3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.
M Shahzadi, S Firasat, H Kaul, K Afshan, R Afzal, S Naz
JPMA. The Journal of the Pakistan Medical Association 70 (3), 515-518, 2020
72020
Measurement of Ascaris lumbricoides IgG antibody, associated risk factors and identification of serum biochemical parameters as biomarkers of pathogenicity …
S Zaman, K Afshan, S Firasat, S Jahan, M Qayyum
72018
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing
R Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, M Hussain, ...
Frontiers in Genetics 14, 1128850, 2023
62023
Spatial Distribution of Dicrocoelium in the Himalayan Ranges: Potential Impacts of Ecological Niches and Climatic Variables
MA Khan, K Afshan, ND Sargison, M Betson, S Firasat, U Chaudhry
Acta Parasitologica 68 (1), 91-102, 2023
62023
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