Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family H Kaul, SA Riazuddin, M Shahid, S Kousar, NH Butt, AU Zafar, SN Khan, ... Molecular vision 16, 511, 2010 | 106 | 2010 |
A new locus for autosomal recessive congenital cataract identified in a Pakistani family H Kaul, SA Riazuddin, A Yasmeen, S Mohsin, M Khan, IA Nasir, SN Khan, ... Molecular vision 16, 240, 2010 | 31 | 2010 |
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1 A Yasmeen, SA Riazuddin, H Kaul, S Mohsin, M Khan, ZA Qazi, IA Nasir, ... Molecular vision 16, 682, 2010 | 28 | 2010 |
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts B Irum, SY Khan, M Ali, H Kaul, F Kabir, B Rauf, F Fatima, R Nadeem, ... PloS one 11 (11), e0162620, 2016 | 27 | 2016 |
Localization of autosomal recessive congenital cataracts in con-sanguineous Pakistani families to a new locus on chromosome 1p T Butt, W Yao, H Kaul, X Jiao, L Gradstein, Y Zhang, T Husnain, ... | 26 | 2007 |
Determination of serum trace elements (Zn, Cu, and Fe) in Pakistani patients with rheumatoid arthritis Z Ullah, MI Ullah, S Hussain, H Kaul, KP Lone Biological trace element research 175, 10-16, 2017 | 23 | 2017 |
Association of interleukin 10 (IL-10) gene with type 2 diabetes mellitus by single nucleotide polymorphism of its promotor region G/A 1082 S Naz, N Shafique, S Sharif, F Manzoor, SZ Safi, S Firasat, H Kaul Critical Reviews™ in Eukaryotic Gene Expression 30 (4), 2020 | 21 | 2020 |
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31 SA Riazuddin, L Amiri-Kordestani, H Kaul, T Butt, X Jiao, S Riazuddin, ... Molecular vision 15, 1050, 2009 | 21 | 2009 |
Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2) H Kaul, M Suman, Z Khan, MI Ullah, UA Ashfaq, S Idrees Clinical and Experimental Optometry 99 (1), 73-77, 2016 | 17 | 2016 |
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3 … R Afzal, S Firasat, H Kaul, B Ahmed, SN Siddiqui, SN Zafar, M Shahzadi, ... Congenital anomalies 59 (5), 152-161, 2019 | 15 | 2019 |
Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families MW Arshad, GV Harlalka, S Lin, I D'Atri, S Mehmood, M Shakil, ... Meta Gene 17, 48-55, 2018 | 15 | 2018 |
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma S Firasat, H Kaul, UA Ashfaq, S Idrees International ophthalmology 38, 807-814, 2018 | 13 | 2018 |
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p N Sabir, SA Riazuddin, H Kaul, F Iqbal, IA Nasir, AU Zafar, ZA Qazi, ... Molecular vision 16, 2911, 2010 | 12 | 2010 |
Interleukin 6 receptor (IL6-R) gene polymorphisms underlie susceptibility to rheumatoid arthritis S Ahmed, S Hussain, A Ammar, S Jahan, S Khaliq, H Kaul Clin Lab 63 (9), 1365-1369, 2017 | 11 | 2017 |
Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24. 3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene. M Shahzadi, S Firasat, H Kaul, K Afshan, R Afzal, S Naz JPMA. The Journal of the Pakistan Medical Association 70 (3), 515-518, 2020 | 6 | 2020 |
Mutational analysis of CYP1B1 gene in Pakistani pediatric patients affected with Primary Congenital Glaucoma MU Khan, R Rehman, H Kaul, S Mahmood, A Ammar Advancements in Life Sciences 7 (1), 32-37, 2019 | 6 | 2019 |
Cytochrome 2C19 and paraoxonase-1 polymorphisms and clopidogrel resistance in ischemic heart disease patients N Akram, G Mustafa, AA Hanif, S Tawwab, S Hussain, H Kaul, S Mohsin Personalized Medicine 16 (5), 379-386, 2019 | 6 | 2019 |
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family X Jiao, SY Khan, H Kaul, T Butt, MA Naeem, S Riazuddin, JF Hejtmancik, ... PloS one 14 (12), e0225010, 2019 | 5 | 2019 |
Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan A Iqbal, S Naz, H Kaul, S Sharif, A Khushbakht, MA Naeem, M Iqtedar, ... Plos one 17 (8), e0273685, 2022 | 4 | 2022 |
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families S Firasat, WA Khan, U Sughra, Nousheen, H Kaul, S Naz, B Noreen, ... Molecular Biology Reports 48, 7467-7476, 2021 | 4 | 2021 |