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copy number variations
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publication
Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?
2012 |
Faculty of Medicine in Hradec Králové
publication
Distribution and functional impact of DNA copy number variation in the rat
2008 |
First Faculty of Medicine
publication
Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
The Effect of DYS-14 Copy Number Variations on Extracellular Fetal DNA Quantification in Maternal Circulation
2009 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University, Third Faculty of Medicine
publication
RNAseqCNV: analysis of large-scale copy number variations from RNA-seq data
2022 |
Second Faculty of Medicine
publication
Rare copy number variation in extremely impulsively violent males
2019 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Diagnostic implications of genetic copy number variation in epilepsy plus
2019 |
Second Faculty of Medicine
publication
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
2019 |
Second Faculty of Medicine, Central Library of Charles University
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
First Faculty of Medicine
publication
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 |
Second Faculty of Medicine
publication
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
2024 |
Second Faculty of Medicine
publication
New findings in the genetics of schizophrenia
2013 |
Faculty of Medicine in Hradec Králové
publication
Expanding the morphologic spectrum of chromophobe renal cell carcinoma: A study of 8 cases with papillary architecture
2020 |
Faculty of Medicine in Pilsen
publication
Renal cell carcinomas with tubulopapillary architecture and oncocytic cells: Molecular analysis of 39 difficult tumors to classify
2021 |
Faculty of Medicine in Pilsen
publication
Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
Second Faculty of Medicine
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
Second Faculty of Medicine
publication
Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia
2023 |
Faculty of Science
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 |
Second Faculty of Medicine
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 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
2018 |
Second Faculty of Medicine
publication
Single-cell analysis of circulating tumor cells
2019 |
Faculty of Medicine in Pilsen
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
Second Faculty of Medicine
publication
Causes of mental disorders - general aspects
2022 |
Faculty of Medicine in Hradec Králové
publication
Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases
2023 |
Faculty of Medicine in Pilsen
publication
Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation
2024 |
First Faculty of Medicine
publication
Clear cell renal cell carcinoma with prominent microvascular hyperplasia: Morphologic, immunohistochemical and molecular-genetic analysis of 7 sporadic cases
2022 |
Faculty of Medicine in Pilsen
publication
Rapid gene content turnover on the germline-restricted chromosome in songbirds
2023 |
Faculty of Science
publication
Duplex methylation-specific semi-quantitative real-time PCR for cost-effective & time-efficient diagnostic screening of chromosome 15 and 14 imprinted regions
2015 |
Publication without faculty affiliation