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Hledat publikace relevantní k dotazu "Single Nucleotide Variants"
Single Nucleotide Variants
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Studium
publication
Single nucleotide variants in KIF14 gene may have prognostic value in breast cancer
2022 |
2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Plzni, Ústřední knihovna
publication
Single Nucleotide Variants in KIF14 Gene May Have Prognostic Value in Breast Cancer
2022 |
2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 |
2. lékařská fakulta
publication
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
2022 |
1. lékařská fakulta
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
1. lékařská fakulta
publication
The molecular landscape of ETMR at diagnosis and relapse
2019 |
2. lékařská fakulta
publication
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
2016 |
2. lékařská fakulta
publication
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing
2018 |
2. lékařská fakulta
publication
Comparative analysis of the chicken IFITM locus by targeted genome sequencing reveals evolution of the locus and positive selection in IFITM1 and IFITM3
2019 |
Přírodovědecká fakulta
publication
Testing the impact of Whole Genome Amplification on genome comparison using the polyploid flagellated Giardia duodenalis as a model
2019 |
1. lékařská fakulta
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
2. lékařská fakulta
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Publikace bez příslušnosti k fakultě
publication
Prognostic impact of somatic mutations in diffuse large B-cell lymphoma and relationship to cell-of-origin: data from the phase III GOYA study
2020 |
1. lékařská fakulta
publication
5' Untranslated Region Elements Show High Abundance and Great Variability in Homologous ABCA Subfamily Genes
2020 |
Lékařská fakulta v Plzni
publication
Large cell calcifying Sertoli cell tumour: molecular and immunohistochemical assessment of a series comprising non-metastasising and metastasising neoplasms
2023 |
Lékařská fakulta v Plzni
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2023 |
Lékařská fakulta v Plzni, 3. lékařská fakulta
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Lékařská fakulta v Plzni
publication
Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors
2020 |
2. lékařská fakulta
publication
Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity
2023 |
1. lékařská fakulta