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The Extinction of Primary Polyarteritis Nodosa: A Modern Science Success Story?
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- Arthritis & Rheumatology, 2024, v. 76, n. 7, p. 996, doi. 10.1002/art.42851
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- Article
Avirulence of a spontaneous Francisella tularensis subsp. mediasiatica prmA mutant.
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- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0305569
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- Article
Gene Expression Analysis of Yeast Strains with a Nonsense Mutation in the eRF3-Coding Gene Highlights Possible Mechanisms of Adaptation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6308, doi. 10.3390/ijms25126308
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- Article
Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6351, doi. 10.3390/ijms25126351
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- Article
Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1557, doi. 10.1002/acn3.52072
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- Article
P09 Next-generation sequencing: on-and off-target analysis of gene editing in fibroblasts from patients with recessive dystrophic epidermolysis bullosa.
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- British Journal of Dermatology, 2024, v. 190, n. 6, p. e83, doi. 10.1093/bjd/ljae105.031
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- Article
Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review.
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- Journal of Genetics, 2024, v. 103, n. 1, p. 1, doi. 10.1007/s12041-023-01458-2
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- Article
Like Father, Like Daughter – Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.
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- 2024
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- Case Study
Suppressor tRNAs at the interface of genetic code expansion and medicine.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1420331
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- Article
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
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- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02150-5
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- Article
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w
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- Article
Readthrough-induced misincorporated amino acid ratios guide mutant-specific therapeutic approaches for two CFTR nonsense mutations.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1389586
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- Article
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early‐infantile developmental and epileptic encephalopathies.
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- Brain & Behavior, 2024, v. 14, n. 5, p. 1, doi. 10.1002/brb3.3535
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- Article
The Segregation of p.Arg68Ter- CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
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- Genes, 2024, v. 15, n. 5, p. 588, doi. 10.3390/genes15050588
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- Article
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.
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- Journal of Molecular Medicine, 2024, v. 102, n. 5, p. 641, doi. 10.1007/s00109-024-02436-6
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- Article
Multiple facial atrophic scars in childhood.
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- Pediatric Dermatology, 2024, v. 41, n. 3, p. 537, doi. 10.1111/pde.15542
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- Article
Assessing the reliability of point mutation as data augmentation for deep learning with genomic data.
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- BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05787-6
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- Article
Syndromic ciliopathy: a taiwanese single-center study.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01880-0
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- Article
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
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- BMC Ophthalmology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12886-024-03419-4
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- Article
Primary Coenzyme Q10 Deficiency-Related Ataxias.
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- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391
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- Article
TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review.
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- Frontiers in Oncology, 2024, p. 01, doi. 10.3389/fonc.2024.1274953
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- Article
Application of Flow Cytometry for Viability Assay of Mutants for Translation Termination Factors in the Yeast Saccharomyces cerevisiae.
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- Microbiology (00262617), 2024, v. 93, n. 2, p. 236, doi. 10.1134/S0026261723604244
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- Article
A novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 4, p. 293, doi. 10.1093/qjmed/hcad280
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- Article
Loss-of-function mutations are main drivers of adaptations during short-term evolution.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57694-8
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- Article
A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3391, doi. 10.3390/ijms25063391
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- Article
Characterization of hyperpolarization-activated cyclic nucleotide-gated channels in oligodendrocytes.
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- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1321682
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- Article
Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: a case report.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1257525
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- Article
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
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- BMC Pediatrics, 2024, v. 23, n. 2, p. 1, doi. 10.1186/s12887-024-04593-6
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- Article
Generation and Characterization of Stable Small Colony Variants of USA300 Staphylococcus aureus in RAW 264.7 Murine Macrophages.
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- Antibiotics (2079-6382), 2024, v. 13, n. 3, p. 264, doi. 10.3390/antibiotics13030264
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- Article
CHARGE syndrome with early fetal ear abnormalities: A case report.
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- 2024
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- Case Study
Stop codon readthrough as a treatment option for epidermolysis bullosa—Where we are and where we are going.
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- Experimental Dermatology, 2024, v. 33, n. 3, p. 1, doi. 10.1111/exd.15042
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- Article
rec-1 loss of function increases recombination in the central gene clusters at the expense of autosomal pairing centers.
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- Genetics, 2024, v. 226, n. 3, p. 1, doi. 10.1093/genetics/iyad205
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- Article
Integrating both common and rare variants to predict bone mineral density and fracture.
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- Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 193, doi. 10.1093/jbmr/zjad022
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- Article
The research group of Prof. Qing Xia and Dr. Yujie Shi collaborated to improve the efficacy of the gene codon expansion system in the treatment of nonsense mutation diseases using oral ionic liquids-unnatural amino acid.
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- Journal of Chinese Pharmaceutical Sciences, 2024, v. 33, n. 3, p. 285
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- Article
Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.
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- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1498, doi. 10.3390/jcm13051498
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- Article
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
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- Pharmaceuticals (14248247), 2024, v. 17, n. 3, p. 314, doi. 10.3390/ph17030314
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- Article
The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.
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- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03570-x
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- Article
Correction: Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.
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- 2024
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- Correction Notice
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01822-w
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- Article
Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency.
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- Annals of Hematology, 2024, v. 103, n. 2, p. 653, doi. 10.1007/s00277-023-05607-6
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- Article
Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
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- Australasian Journal of Dermatology, 2024, v. 65, n. 1, p. 91, doi. 10.1111/ajd.14170
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- Article
Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon–Lefèvre syndrome.
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- British Journal of Dermatology, 2024, v. 190, n. 2, p. 272, doi. 10.1093/bjd/ljad373
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- Article
Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.
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- Clinical Laboratory, 2024, v. 70, n. 2, p. 226, doi. 10.7754/Clin.Lab.2022.220126
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- Article
Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1307558
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- Article
Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes.
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- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00504-1
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- Article
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwar?sm in Chicken.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2018.00193
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- Article
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.
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- Hereditary Cancer in Clinical Practice, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s13053-023-00272-2
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- Article
Mitochondrial DNA editing in potato through mitoTALEN and mitoTALECD: molecular characterization and stability of editing events.
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- Plant Methods, 2024, v. 20, n. 1, p. 1, doi. 10.1186/s13007-023-01124-9
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- Article
Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells.
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- British Journal of Haematology, 2024, v. 204, n. 1, p. 292, doi. 10.1111/bjh.19134
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- Article
Clinical Features of Li-Fraumeni Syndrome in Korea.
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- Cancer Research & Treatment, 2024, v. 56, n. 1, p. 334, doi. 10.4143/crt.2023.794
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- Article