saima siddiqi
saima siddiqi
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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
Genetics of vascular dementia–review from the ICVD working group
MA Ikram, A Bersano, R Manso-Calderón, JP Jia, H Schmidt, L Middleton, ...
BMC medicine 15, 1-7, 2017
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
Investigation of the Greek ancestry of populations from northern Pakistan
A Mansoor, K Mazhar, S Khaliq, A Hameed, S Rehman, S Siddiqi, ...
Human Genetics 114, 484-490, 2004
Patient HLA-DRB1* and-DQB1* allele and haplotype association with hepatitis C virus persistence and clearance
L Ali, A Mansoor, N Ahmad, S Siddiqi, K Mazhar, AG Muazzam, R Qamar, ...
Journal of General Virology 91 (8), 1931-1938, 2010
Genetic instability in EBV-transformed lymphoblastoid cell lines
A Mohyuddin, Q Ayub, S Siddiqi, DR Carvalho-Silva, K Mazhar, ...
Biochimica et Biophysica Acta (BBA)-General Subjects 1670 (1), 81-83, 2004
Molecular characterization of multidrug-resistant isolates of Mycobacterium tuberculosis from patients in Punjab, Pakistan
SN Khan, S Niemann, M Gulfraz, M Qayyum, S Siddiqi, ZS Mirza, ...
Pakistan Journal of Zoology 45 (1), 2013
Biallelic variants in four genes underlying recessive osteogenesis imperfecta
A Hayat, S Hussain, M Bilal, M Kausar, B Almuzzaini, S Abbas, A Tanveer, ...
European journal of medical genetics 63 (8), 103954, 2020
Association of HLA-DRB1 and-DQB1alleles and haplotypes with rheumatoid arthritis in a Pakistani population
AG Muazzam, A Mansoor, L Ali, S Siddiqi, A Hameed, M Ajmal, K Mazhar
Arthritis Research & Therapy 15, 1-9, 2013
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
S Siddiqi, S Siddiq, A Mansoor, J Oostrik, N Ahmad, SAR Kazmi, ...
Journal of human genetics 58 (12), 819-821, 2013
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
C Zazo Seco, A Castells-Nobau, S Joo, M Schraders, JN Foo, ...
Disease models & mechanisms 10 (2), 105-118, 2017
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias
S Siddiqi, JN Foo, A Vu, S Azim, DL Silver, A Mansoor, SKH Tay, S Abbasi, ...
PLoS One 9 (12), e113258, 2014
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
M Kausar, S Siddiqi, M Yaqoob, S Mansoor, O Makitie, A Mir, CC Khor, ...
Journal of biomedical science 25, 1-10, 2018
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
M Kausar, EGY Chew, H Ullah, M Anees, CC Khor, JN Foo, O Makitie, ...
Frontiers in Genetics 10, 144, 2019
Direct‐acting antiviral agents in the treatment of chronic hepatitis C—Real‐life experience from clinical practices in Pakistan
S Mushtaq, A Mansoor, M Umar, A Khan, S Siddiqi, S Manzoor
Journal of Medical Virology 92 (12), 3475-3487, 2020
Identification and in silico characterization of a novel p. P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
M Ajmal, A Mir, S Wahid, CC Khor, JN Foo, S Siddiqi, M Kauser, SA Malik, ...
BMC Medical Genetics 18, 1-9, 2017
Prevalence of the C677T single-nucleotide polymorphism in the methylenetetrahydrofolate reductase gene among Pakistani ethnic groups
A Mansoor, K Mazhar, L Ali, AG Muazzam, S Siddiqi, S Usman
Genetic Testing and Molecular Biomarkers 13 (4), 521-526, 2009
Genotype CC of rs12979860 is providing protection against infection rather than assisting in treatment response for HCV genotype 3a infection
AH Hashmi, N Ahmad, S Riaz, L Ali, S Siddiqi, KM Khan, AR Shakoori, ...
Genes & Immunity 15 (6), 430-432, 2014
MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world
N Ullah, A Mansoor, S Micheal, B Mirza, R Qamar, K Mazhar, S Siddiqi
Personalized Medicine 16 (1), 35-49, 2019
Occult HCV or delayed viral clearance from lymphocytes of Chronic HCV genotype 3 patients after interferon therapy
AG Muazzam, S Qureshi, A Mansoor, L Ali, M Iqbal, S Siddiqi, KM Khan, ...
Genetic Vaccines and Therapy 9, 1-6, 2011
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