Research Papers By Author

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Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

International ,Journal ,PLoS ONE ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
IMPG2-associated retinitis pigmentosa displays early atropic macular involvement

International ,Journal ,Investigative Ophthalmology & Vision Science ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Exploring the exocyst and its association with the cilium and retinal-renal ciliopathies

International ,Journal ,Nephrology Dialysis Transplantation ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

International ,Journal ,Journal of Medical Genetics ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
The molecular basis of retinal dystrophies in Pakistan

International ,Journal ,Gene ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

International ,Journal ,Gene ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

International ,Journal ,Human Mutation ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases

International ,Journal ,Human Mutation ,2014
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the Pakistani population

National ,Journal ,Pakistan Journal of Zoology ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome

International ,Journal ,Journal of Human Genetics ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

International ,Journal ,Human Mutation ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Genetic Associations of Psoriasis in a Pakistani Population

International ,Journal ,British Journal of Dermatology ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
The genetic spectrum of Familial Hypercholesterolemia in Pakistan

International ,Journal ,Clinica Chimica Acta ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Association of Pro12Ala polymorphism in PPAR? with proliferative diabetic retinopathy

International ,Journal ,Molecular Vision ,2013
Prof. Dr. Raheel Qamar, T.I.
Rector , Rector Office Department,
Islamabad Campus
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

International ,Journal ,Molecular Vision ,2013
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