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1.
Contributing risk factors of common psychiatric disorders in the Pakistani population.
Eur Arch Psychiatry Clin Neurosci
; 273(4): 963-981, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36583741
2.
Association of 11 variants of the dopaminergic and cognitive pathways genes with major depression, schizophrenia and bipolar disorder in the Pakistani population.
Int J Neurosci
; : 1-13, 2023 Aug 29.
Article
in English
| MEDLINE | ID: mdl-37642370
3.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Article
in English
| MEDLINE | ID: mdl-31903486
4.
Association of IGF1 polymorphisms with exotropia in a Pakistani cohort.
Mol Vis
; 28: 369-377, 2022.
Article
in English
| MEDLINE | ID: mdl-36338665
5.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC Musculoskelet Disord
; 23(1): 818, 2022 Aug 30.
Article
in English
| MEDLINE | ID: mdl-36042462
6.
Genetic Association of Butyrylcholinesterase with Major Depressive Disorder.
Biochem Genet
; 60(2): 720-737, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34414522
7.
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Int J Neurosci
; : 1-11, 2022 Nov 08.
Article
in English
| MEDLINE | ID: mdl-36282036
8.
Association of dopamine ß-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population.
Int J Neurosci
; : 1-9, 2022 Sep 24.
Article
in English
| MEDLINE | ID: mdl-36120985
9.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Hum Mol Genet
; 28(15): 2531-2548, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-30986821
10.
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Res
; 28(1): 100-110, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29162642
11.
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
PLoS Genet
; 14(8): e1007504, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30157172
12.
Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.
Ann Hum Genet
; 83(4): 285-290, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30895599
13.
A 3' untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma.
Ann Hum Genet
; 82(2): 74-87, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29139108
14.
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Mol Biol Rep
; 45(3): 353-360, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29600437
15.
The adverse role of excess negative ions in reducing the photoluminescence from water soluble MAA-CdSe/ZnS quantum dots in various phosphate buffers.
Phys Chem Chem Phys
; 20(46): 29446-29451, 2018 Nov 28.
Article
in English
| MEDLINE | ID: mdl-30452035
16.
Expression profiling of extracellular matrix related genes in patients with strabismus.
Clin Exp Ophthalmol
; 51(6): 646-649, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37201960
17.
Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene.
Genet Mol Biol
; 41(3): 570-577, 2018.
Article
in English
| MEDLINE | ID: mdl-30044465
18.
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Neurogenetics
; 17(1): 17-23, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26489929
19.
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.
Genet Res (Camb)
; 97: e19, 2015 Oct 06.
Article
in English
| MEDLINE | ID: mdl-26438105
20.
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
J Med Genet
; 51(7): 444-8, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24737827