Found: 34
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Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
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- Human Genetics, 2005, v. 117, n. 5, p. 452, doi. 10.1007/s00439-005-1309-9
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- Article
Investigation of the Greek ancestry of populations from northern Pakistan.
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- Human Genetics, 2004, v. 114, n. 5, p. 484, doi. 10.1007/s00439-004-1094-x
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- Article
Refinement of the locus for autosomal recessive cone–rod dystrophy (CORD8) linked to chromosome 1q23–q24 in a Pakistani family and exclusion of candidate genes.
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- Journal of Human Genetics, 2006, v. 51, n. 9, p. 827, doi. 10.1007/s10038-006-0028-y
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- Article
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
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- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3681, doi. 10.1093/hmg/dds197
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- Article
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.
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- Genes, 2022, v. 13, n. 6, p. 971, doi. 10.3390/genes13060971
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- Article
Relationship between IQ and academic performance of medical students.
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- Professional Medical Journal, 2021, v. 28, n. 2, p. 242, doi. 10.29309/TPMJ/2021.28.02.4348
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- Article
Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201726
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- Article
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 53, doi. 10.1111/cge.14240
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- Article
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant.
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- Annals of Human Genetics, 2009, v. 73, n. 3, p. 335, doi. 10.1111/j.1469-1809.2009.00517.x
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- Article
Molecular Characterization of Haemoglobin E.
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- Journal of the Pakistan Medical Association, 2023, v. 73, n. 12, p. 2357, doi. 10.47391/JPMA.7138
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- Article
VKORC1 gene polymorphism (-1639G>A) in warfarin therapy patients of Pakistani population.
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- Journal of the Pakistan Medical Association, 2022, v. 72, n. 3, p. 418, doi. 10.47391/JPMA.01042
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- Article
Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction -- A case series.
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- Journal of the Pakistan Medical Association, 2020, v. 70, n. 11, p. 2061, doi. 10.47391/JPMA.716
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- Article
Association of TP53 codon 72 polymorphism in women suffering from endometriosis from Lahore, Pakistan.
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- Journal of the Pakistan Medical Association, 2018, v. 68, n. 2, p. 224
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- Article
Serum vitamin D levels and gene polymorphisms (Fok1 and Apa1) in children with type I diabetes and healthy controls.
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- Journal of the Pakistan Medical Association, 2016, v. 66, n. 10, p. 1215
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- Article
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01101-2
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- Article
Self-esteem, optimism, and their associated factors among Optometry students at the University of Lahore.
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- Journal of University Medical & Dental College, 2022, v. 13, n. 4, p. 473, doi. 10.37723/jumdc.v13i4.736
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- Article
COMPARISON OF ANTHROPOMETRIC PARAMETERS BETWEEN OBESE MALE PARTICIPANTS WITH AND WITHOUT OBSTRUCTIVE SLEEP APNEA.
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- Journal of University Medical & Dental College, 2021, v. 12, n. 3, p. 162, doi. 10.37723/jumdc.v12i3.559
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- Article
"Like sugar in milk": reconstructing the genetic history of the Parsi population.
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- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1244-9
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- Article
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
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- Nature Genetics, 2000, v. 24, n. 1, p. 79, doi. 10.1038/71732
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- Article
Clinical utility of CLL-IPI scoring system in Pakistani Chronic Lymphocytic Patients: A single center experience.
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- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 4, p. 701, doi. 10.12669/pjms.40.4.8703
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- Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
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- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
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- Article
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X) in patients with Fanconi anemia in Pakistan.
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- Turkish Journal of Medical Sciences, 2017, v. 47, n. 2, p. 391, doi. 10.3906/sag-1506-53
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- Article
Analysis of CYP2C9 polymorphisms (*2 and *3) in warfarin therapy patients in Pakistan. Association of CYP2C9 polymorphisms (*2 and*3) with warfarin dose, age, PT and INR.
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- Journal of Thrombosis & Thrombolysis, 2015, v. 40, n. 2, p. 218, doi. 10.1007/s11239-015-1215-5
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- Article
The association of urinary interferon-gamma inducible protein-10 (IP10/CXCL10) levels with kidney allograft rejection.
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- Inflammation Research, 2017, v. 66, n. 5, p. 425, doi. 10.1007/s00011-017-1025-7
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- Article
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
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- Journal of the Pakistan Medical Association, 2011, v. 61, n. 11, p. 1060
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- Article
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu).
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- Human Mutation, 1999, v. 13, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5
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- Article
Genetic Analysis of Inhibin Alpha (INHα) Mutation (769G>A) in Patients with Premature Ovarian Failure in a Local Population.
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- Biomedica, 2021, v. 37, n. 2, p. 17, doi. 10.51441/biomedica/5-165
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- Article
Genetic Analysis of Inhibin Alpha (INHα) Mutation (769G>A) in Patients with Premature Ovarian Failure in a Local Population.
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- Biomedica, 2021, v. 37, n. 1, p. 17, doi. 10.51441/biomedica/5-165
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- Article
Host Genetic and Epigenetic Factors in Determining Clinical Outcome of Coronavirus Disease-2019.
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- Biomedica, 2020, v. 36, p. 164
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- Article
Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis.
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- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.678705
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- Article
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
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- International Journal of Laboratory Hematology, 2020, v. 42, n. 5, p. 628, doi. 10.1111/ijlh.13266
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- Article
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
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- Human Mutation, 2022, v. 43, n. 12, p. 1757, doi. 10.1002/humu.24490
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- Article
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00214
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- Article
Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.
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- Urolithiasis, 2020, v. 48, n. 5, p. 385, doi. 10.1007/s00240-019-01157-7
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- Article