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default2016 A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.docx2016-08-17 08:41809 KB
default2018 Genetics of rotator cuff tears no association of col5a1 gene in a case-control study.pdf2018-12-26 09:56569 KB
default2019 Case of Plasmodium knowlesi Malaria in Poland Linked to Travel in Southeast Asia.pdf2020-03-18 08:51438 KB
default2020 Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion.pdf2020-09-23 09:582307 KB
default2020 Genetic factors in rotator cuff pathology potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.pdf2020-05-21 03:35519 KB
default2020 Mitochondrial DNA Survey Reveals the Lack of Accuracy in Maremmano Horse Studbook Records.pdf2020-09-30 02:271922 KB
default2020 Non‐syndromic anophthalmia microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner.pdf2021-01-19 07:161743 KB
default2021 Associations of site-specific CD4+-T-cell hypomethylation within CD40-ligand promotor and enhancer regions with disease activity of women with systemic lupus erythematosus.pdf2022-05-03 08:54379 KB
default2021 Non-syndromic anophthalmiamicrophthalmia can be causedNon-syndromic anophthalmiamicrophthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.pdf2022-05-03 09:081743 KB
default2021 Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations.pdf2022-05-03 09:451836 KB
default2022 A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion.pdf2023-01-30 07:22561 KB
default2022 Performance evaluation of three DNA sample tracking tools in a whole exome sequencing workflow.pdf2022-05-03 07:502220 KB
default2023 Genetic basis for in vivo piperacillin-tazobactam resistance.pdf2023-07-02 07:581743 KB
default2023 Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.pdf2023-07-02 08:09831 KB
default2023 New Insights in 9q21.13 Microdeletion Syndrome Genotype-Phenotype Correlation of 28 Patients.pdf2023-07-02 07:482465 KB
default2023 Non-invasive prenatal testing (NIPT) Combination of copy number variant and gene analyses using an in-house target enrichment next generation sequencing.pdf2024-01-19 06:17385 KB
default2023 Role of blaTEM and OmpC in the piperacillin-tazobactam resistance evolution by E. coli in patients with complicated intra-abdominal infection.pdf2024-01-19 02:004462 KB
default2023 Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.pdf2023-07-02 08:081327 KB
default2023 Y-Chromosome Haplotype Report among Eight Italian Horse Breeds.pdf2024-01-19 06:181865 KB
default2024 Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes.pdf2024-12-25 04:072265 KB
default2024 Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.pdf2024-06-17 05:482139 KB
default2024 Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.pdf2024-12-25 03:23180 KB