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Glomerular Transcriptome Profiles in Focal Glomerulosclerosis: New Genes and Pathways for Steroid Resistance.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1459
- By:
- Publication type:
- Article
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1281
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- Publication type:
- Article
The deubiquitinating gene Usp29 is dispensable for fertility in male mice.
- Published in:
- SCIENCE CHINA Life Sciences, 2019, v. 62, n. 4, p. 544, doi. 10.1007/s11427-018-9469-4
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- Publication type:
- Article
A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder.
- Published in:
- Pakistan Journal of Zoology, 2023, v. 55, n. 1, p. 391, doi. 10.17582/journal.pjz/20191118061114
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- Publication type:
- Article
TP53LNC-DB, the database of lncRNAs in the p53 signalling network.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2019, v. 2019, p. N.PAG, doi. 10.1093/database/bay136
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- Publication type:
- Article
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
- Published in:
- Annals of Clinical & Laboratory Science, 2019, v. 49, n. 6, p. 710
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- Publication type:
- Article
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
- Published in:
- Neural Plasticity, 2021, p. 1, doi. 10.1155/2021/5528434
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- Publication type:
- Article
A Validation Study Comparing Risk Prediction Models of IgA Nephropathy.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.753901
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- Publication type:
- Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
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- Publication type:
- Article
Identification of CDKN2A variants in breast cancer patients in Pakistan.
- Published in:
- Genes & Genetic Systems, 2019, v. 94, n. 3, p. 117, doi. 10.1266/ggs.18-00053
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- Publication type:
- Article
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00430-y
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- Publication type:
- Article
Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 1, p. 9, doi. 10.1159/000497114
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- Publication type:
- Article
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
- Published in:
- Journal of Gene Medicine, 2021, v. 23, n. 1, p. 1, doi. 10.1002/jgm.3279
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- Publication type:
- Article
Au@Ag core-shell nanoparticles for microRNA-21 determination based on duplex-specific nuclease signal amplification and surface-enhanced Raman scattering.
- Published in:
- Microchimica Acta, 2020, v. 187, n. 7, p. 1, doi. 10.1007/s00604-020-04330-7
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- Publication type:
- Article
Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis.
- Published in:
- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0276313
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- Publication type:
- Article
A highly sensitive DNAzyme-based SERS biosensor for quantitative detection of lead ions in human serum.
- Published in:
- Analytical & Bioanalytical Chemistry, 2020, v. 412, n. 19, p. 4565, doi. 10.1007/s00216-020-02709-2
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- Publication type:
- Article
Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1275633
- By:
- Publication type:
- Article
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 447, doi. 10.3390/genes14020447
- By:
- Publication type:
- Article
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
- Published in:
- Breast Cancer (13406868), 2019, v. 26, n. 1, p. 11, doi. 10.1007/s12282-018-0894-0
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- Publication type:
- Article