Found: 22
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RE: Steroid-resistant nephrotic syndrome: impact of genetic testing.
- Published in:
- Annals of Saudi Medicine, 2014, v. 34, n. 2, p. 191, doi. 10.5144/0256-4947.2014.191
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- Publication type:
- 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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- Publication type:
- Article
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3681, doi. 10.1093/hmg/dds197
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- Publication type:
- Article
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 971, doi. 10.3390/genes13060971
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- Publication type:
- Article
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 53, doi. 10.1111/cge.14240
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- Publication type:
- Article
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01101-2
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- Publication type:
- Article
Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2023, v. 19, n. 1, p. 1, doi. 10.1186/s13223-023-00786-3
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- Publication type:
- Article
The association of urinary interferon-gamma inducible protein-10 (IP10/CXCL10) levels with kidney allograft rejection.
- Published in:
- Inflammation Research, 2017, v. 66, n. 5, p. 425, doi. 10.1007/s00011-017-1025-7
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- Publication type:
- Article
Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children.
- Published in:
- 2014
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- Publication type:
- Journal Article
Re: NPHS2 Gene in Steroid-resistant Nephrotic Syndrome: Prevalence, Clinical Course, and Mutational Spectrum in South-West Iranian Children.
- Published in:
- 2014
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- Publication type:
- Letter to the Editor
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
- Published in:
- Journal of the Pakistan Medical Association, 2011, v. 61, n. 11, p. 1060
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- Publication type:
- 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.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.678705
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- Publication type:
- Article
Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00560
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- Publication type:
- Article
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00360
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- Publication type:
- Article
The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.
- Published in:
- Evolutionary Bioinformatics, 2022, v. 18, p. 1, doi. 10.1177/11769343221095834
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- Publication type:
- Article
The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.
- Published in:
- Evolutionary Bioinformatics, 2022, v. 18, p. 1, doi. 10.1177/11769343221095834
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- Publication type:
- Article
The prevalence of pharmacogenetic variants of vitamin K epoxide reductase complex subunit 1 gene (rs9923231), cytochrome P450 family 2 subfamily C member 9 gene (rs1799853) and cytochrome P450 family 3 subfamily-A member-5 gene (rs776746) among 13 ethnic groups of Pakistan
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 5, p. 4017, doi. 10.1007/s11033-023-08304-9
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- Publication type:
- Article
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 4, p. 3841, doi. 10.1007/s11033-021-06380-3
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- Publication type:
- Article
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1757, doi. 10.1002/humu.24490
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- Publication type:
- Article
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00214
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- Publication type:
- Article
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
- Published in:
- Urolithiasis, 2022, v. 50, n. 4, p. 439, doi. 10.1007/s00240-022-01338-x
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- Publication type:
- Article
Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.
- Published in:
- Urolithiasis, 2020, v. 48, n. 5, p. 385, doi. 10.1007/s00240-019-01157-7
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- Publication type:
- Article