Dr. Muhammad Ajmal
Dr. Muhammad Ajmal
Radboud University Medical Centre Nijmegen
Verified email at gen.umcn.nl
TitleCited byYear
Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts
H Ayub, MI Khan, S Micheal, F Akhtar, M Ajmal, S Shafique, SHB Ali, ...
Molecular vision 16, 18, 2010
622010
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
S Shafique, S Siddiqi, M Schraders, J Oostrik, H Ayub, A Bilal, M Ajmal, ...
PloS one 9 (6), e100146, 2014
432014
In Silico Functional Meta‐Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
SS Cornelis, NM Bax, J Zernant, R Allikmets, LG Fritsche, JT den Dunnen, ...
Human mutation 38 (4), 400-408, 2017
312017
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
M Ajmal, MI Khan, K Neveling, YM Khan, M Azam, NK Waheed, ...
Journal of medical genetics 51 (7), 444-448, 2014
292014
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
M Ajmal, MI Khan, K Neveling, A Tayyab, S Jaffar, A Sadeque, H Ayub, ...
Molecular vision 19, 644, 2013
292013
Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction
W Ahmed, M Malik, I Saeed, AA Khan, A Sadeque, U Kaleem, N Ahmed, ...
Molecular biology reports 38 (4), 2541-2548, 2011
242011
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family
M Azam, RWJ Collin, MI Khan, STA Shah, N Qureshi, M Ajmal, ...
Molecular vision 15, 1788, 2009
242009
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
M Ajmal, MI Khan, S Micheal, W Ahmed, A Shah, H Venselaar, H Bokhari, ...
Molecular Vision 18, 1226, 2012
232012
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
GDN Astuti, M Bertelsen, MN Preising, M Ajmal, B Lorenz, SMH Faradz, ...
European Journal of Human Genetics 24 (7), 1071-1079, 2016
212016
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
M Ajmal, MI Khan, K Neveling, YM Khan, SHB Ali, W Ahmed, MS Iqbal, ...
Molecular Vision 18, 1558, 2012
172012
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa
M Azam, RWJ Collin, A Malik, MI Khan, STA Shah, AA Shah, A Hussain, ...
Archives of Ophthalmology 129 (10), 1377-1378, 2011
172011
The molecular basis of retinal dystrophies in Pakistan
M Khan, M Azam, M Ajmal, R Collin, A den Hollander, F Cremers, ...
Genes 5 (1), 176-195, 2014
162014
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan
M Maria, M Ajmal, M Azam, NK Waheed, SN Siddiqui, B Mustafa, H Ayub, ...
PLoS One 10 (3), e0119806, 2015
152015
Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia
M Ajmal, W Ahmed, A Sadeque, SHB Ali, SH Bokhari, N Ahmed, R Qamar
Molecular biology reports 37 (8), 3869-3875, 2010
132010
Molecular mechanism of quorum-sensing in Enterococcus faecalis: its role in virulence and therapeutic approaches
L Ali, M Goraya, Y Arafat, M Ajmal, JL Chen, D Yu
International journal of molecular sciences 18 (5), 960, 2017
122017
Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan
MI Khan, M Ajmal, S Micheal, M Azam, A Hussain, A Shahzad, ...
Clinical genetics 84 (3), 290-293, 2013
122013
The genetic spectrum of familial hypercholesterolemia in Pakistan
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, ...
Clinica Chimica Acta 421, 219-225, 2013
112013
Prevalence of Hepatitis C Virus in Urban Ghettos of Twin Cities
R Satti, F Mustafa, MI Khan, TS Haq, ZU Khan, M Zubair, ST ur Rasool, ...
Pakistan J. Zool 44 (4), 937-943, 2012
92012
Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients
W Ahmed, M Ajmal, A Sadeque, RA Whittall, S Rafiq, W Putt, A Khawaja, ...
Molecular biology reports, 1-8, 2012
72012
A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia
M Ajmal, W Ahmed, N Akhtar, A Sadeque, A Khalid, SH Benish Ali, ...
Genetic testing and molecular biomarkers 15 (9), 601-606, 2011
62011
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