ℹ️
🇨🇿
Hledání
Hledat publikace relevantní k dotazu "Copy number variation"
Copy number variation
Publikace
Předměty
Osoby
Publikace
Studium
publication
Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?
2012 |
Lékařská fakulta v Hradci Králové
publication
Distribuce a funkční dopad variability v počtu kopií DNA u potkana
2008 |
1. lékařská fakulta
publication
Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci
2016 |
1. lékařská fakulta, Ústřední knihovna
publication
The Effect of DYS-14 Copy Number Variations on Extracellular Fetal DNA Quantification in Maternal Circulation
2009 |
1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, Ústřední knihovna, 3. lékařská fakulta
publication
RNAseqCNV: analysis of large-scale copy number variations from RNA-seq data
2022 |
2. lékařská fakulta
publication
Rare copy number variation in extremely impulsively violent males
2019 |
1. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
publication
Diagnostic implications of genetic copy number variation in epilepsy plus
2019 |
2. lékařská fakulta
publication
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
2019 |
2. lékařská fakulta, Ústřední knihovna
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
1. lékařská fakulta
publication
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 |
2. lékařská fakulta
publication
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
2024 |
2. lékařská fakulta
publication
New findings in the genetics of schizophrenia
2013 |
Lékařská fakulta v Hradci Králové
publication
Expanding the morphologic spectrum of chromophobe renal cell carcinoma: A study of 8 cases with papillary architecture
2020 |
Lékařská fakulta v Plzni
publication
Renal cell carcinomas with tubulopapillary architecture and oncocytic cells: Molecular analysis of 39 difficult tumors to classify
2021 |
Lékařská fakulta v Plzni
publication
Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease
2016 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
2. lékařská fakulta
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
2. lékařská fakulta
publication
Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia
2023 |
Přírodovědecká fakulta
publication
A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
2013 |
2. lékařská fakulta
publication
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
2013 |
1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
2018 |
2. lékařská fakulta
publication
Single-cell analysis of circulating tumor cells
2019 |
Lékařská fakulta v Plzni
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
2. lékařská fakulta
publication
Příčiny duševních poruch - obecné aspekty
2022 |
Lékařská fakulta v Hradci Králové
publication
Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases
2023 |
Lékařská fakulta v Plzni
publication
Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation
2024 |
1. lékařská fakulta
publication
Clear cell renal cell carcinoma with prominent microvascular hyperplasia: Morphologic, immunohistochemical and molecular-genetic analysis of 7 sporadic cases
2022 |
Lékařská fakulta v Plzni
publication
Rapid gene content turnover on the germline-restricted chromosome in songbirds
2023 |
Přírodovědecká fakulta
publication
Duplex methylation-specific semi-quantitative real-time PCR for cost-effective & time-efficient diagnostic screening of chromosome 15 and 14 imprinted regions
2015 |
Publikace bez příslušnosti k fakultě