Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
Publisher:
PLoS ONE
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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IMPG2-associated retinitis pigmentosa displays early atropic macular involvement
Publisher:
Investigative Ophthalmology & Vision Science
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Islamabad
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Exploring the exocyst and its association with the cilium and retinal-renal ciliopathies
Publisher:
Nephrology Dialysis Transplantation
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Publisher:
Journal of Medical Genetics
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Publication Details..
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The molecular basis of retinal dystrophies in Pakistan
Publisher:
Gene
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
Publisher:
Gene
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Publisher:
Human Mutation
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Islamabad
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Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases
Publisher:
Human Mutation
Publication Year:
2014
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the Pakistani population
Publisher:
Pakistan Journal of Zoology
Publication Year:
2013
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Level:
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National
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Type:
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Journal
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Islamabad
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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
Publisher:
Journal of Human Genetics
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Publisher:
Human Mutation
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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Genetic Associations of Psoriasis in a Pakistani Population
Publisher:
British Journal of Dermatology
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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The genetic spectrum of Familial Hypercholesterolemia in Pakistan
Publisher:
Clinica Chimica Acta
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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Association of Pro12Ala polymorphism in PPAR? with proliferative diabetic retinopathy
Publisher:
Molecular Vision
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
Publisher:
Molecular Vision
Publication Year:
2013
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Level:
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International
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Type:
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Journal
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Publication Details..
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Islamabad
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