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non-coding variant
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publication
Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma
2023 |
Lékařská fakulta v Plzni
publication
Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer
2018 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
2023 |
Lékařská fakulta v Hradci Králové
publication
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
2014 |
2. lékařská fakulta
publication
Clinical Characteristics and Mutational Analysis of the RyR2 Gene in Seven Czech Families with Catecholaminergic Polymorphic Ventricular Tachycardia
2012 |
Publikace bez příslušnosti k fakultě
publication
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
2021 |
Lékařská fakulta v Plzni
publication
Nuclear genetic codes with a different meaning of the UAG and the UAA codon
2017 |
Přírodovědecká fakulta
publication
Functional dissection of inherited non-coding variation influencing multiple myeloma risk
2022 |
Lékařská fakulta v Plzni
publication
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
2018 |
1. lékařská fakulta
publication
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
2019 |
2. lékařská fakulta
publication
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
2022 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
2016 |
1. lékařská fakulta
publication
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder
2021 |
1. lékařská fakulta
publication
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
2014 |
1. lékařská fakulta
publication
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
2017 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
2020 |
Lékařská fakulta v Plzni
publication
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
2021 |
Lékařská fakulta v Plzni
publication
Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer
2018 |
2. lékařská fakulta