Shagufta Khaliq
Shagufta Khaliq
UHS, Lahore
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
MM Sohocki, SJ Bowne, LS Sullivan, S Blackshaw, CL Cepko, AM Payne, ...
Nature genetics 24 (1), 79-83, 2000
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant
H Li, S Borinskaya, K Yoshimura, N Kal’Ina, A Marusin, VA Stepanov, ...
Annals of human genetics 73 (3), 335-345, 2009
Connexin 50 mutation in a family with congenital" zonular nuclear" pulverulent cataract of Pakistani origin
V Berry, D Mackay, S Khaliq, PJ Francis, A Hameed, K Anwar, SQ Mehdi, ...
Human genetics 105 (1-2), 168-170, 1999
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
S Dharmaraj, BP Leroy, MM Sohocki, RK Koenekoop, I Perrault, K Anwar, ...
Archives of ophthalmology 122 (7), 1029-1037, 2004
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
A Hameed, A Abid, A Aziz, M Ismail, SQ Mehdi, S Khaliq
Journal of medical genetics 40 (8), 616-619, 2003
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of …
AF Roux, V Faugere, S Le Guedard, N Pallares-Ruiz, A Vielle, ...
Journal of medical genetics 43 (9), 763-768, 2006
Geographically separate increases in the frequency of the derived ADH1B* 47His allele in eastern and western Asia
H Li, N Mukherjee, U Soundararajan, Z Tįrnok, C Barta, S Khaliq, ...
The American Journal of Human Genetics 81 (4), 842-846, 2007
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
A Abid, M Ismail, SQ Mehdi, S Khaliq
Journal of medical genetics 43 (4), 378-381, 2006
Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan
S Firasat, S Khaliq, A Mohyuddin, M Papaioannou, C Tyler-Smith, ...
European Journal of Human Genetics 15 (1), 121-126, 2007
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
T Forshew, CA Johnson, S Khaliq, S Pasha, C Willis, R Abbasi, L Tee, ...
Human genetics 117 (5), 452-459, 2005
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13
A Hameed, S Khaliq, M Ismail, K Anwar, ND Ebenezer, T Jordan, ...
Investigative ophthalmology & visual science 41 (3), 629-633, 2000
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, ...
Journal of medical genetics 42 (5), 436-438, 2005
An RFLP map for 2q33‐q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing …
MA Shaw, S Atkinson, H Dockrell, R Hussain, Z Lins‐Lainson, J Shaw, ...
Annals of human genetics 57 (4), 251-271, 1993
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
L Prasov, T Masud, S Khaliq, SQ Mehdi, A Abid, ER Oliver, ED Silva, ...
Human molecular genetics 21 (16), 3681-3694, 2012
P53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients
S Khaliq, A Hameed, T Khaliq, Q Ayub, R Qamar, A Mohyuddin, K Mazhar, ...
Genetic testing 4 (1), 23-29, 2000
Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites
Q Ayub, A Mansoor, M Ismail, S Khaliq, A Mohyuddin, A Hameed, ...
American Journal of Physical Anthropology: The Official Publication of the …, 2003
HLA polymorphism in six ethnic groups from Pakistan
SQM Mohyuddin A, Q Ayub, S Khaliq, S Rehman
Tissue Antigens 59, 492-501, 2002
RP1 protein truncating mutations predominate at the RP1 adRP locus
A Payne, E Vithana, S Khaliq, A Hameed, J Deller, L Abu-Safieh, ...
Investigative ophthalmology & visual science 41 (13), 4069-4073, 2000
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan
A Abid, S Khaliq, S Shahid, A Lanewala, M Mubarak, S Hashmi, J Kazi, ...
Gene 502 (2), 133-137, 2012
Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients
M Ismail, N Akhtar, M Nasir, S Firasat, Q Ayub, S Khaliq
BMB reports 37 (5), 552-555, 2004
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