Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
International
,Journal
,PLoS ONE
,2014
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
IMPG2-associated retinitis pigmentosa displays early atropic macular involvement
International
,Journal
,Investigative Ophthalmology & Vision Science
,2014
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Exploring the exocyst and its association with the cilium and retinal-renal ciliopathies
International
,Journal
,Nephrology Dialysis Transplantation
,2014
|
Incharge Campus
,
Administration
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
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
The molecular basis of retinal dystrophies in Pakistan
International
,Journal
,Gene
,2014
|
Incharge Campus
,
Administration
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
|
Incharge Campus
,
Administration
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
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases
International
,Journal
,Human Mutation
,2014
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the Pakistani population
National
,Journal
,Pakistan Journal of Zoology
,2013
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
International
,Journal
,Journal of Human Genetics
,2013
|
Incharge Campus
,
Administration
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
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Genetic Associations of Psoriasis in a Pakistani Population
International
,Journal
,British Journal of Dermatology
,2013
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
The genetic spectrum of Familial Hypercholesterolemia in Pakistan
International
,Journal
,Clinica Chimica Acta
,2013
|
Incharge Campus
,
Administration
Department,
Islamabad
Campus
|
Association of Pro12Ala polymorphism in PPAR? with proliferative diabetic retinopathy
International
,Journal
,Molecular Vision
,2013
|
Incharge Campus
,
Administration
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
|