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Search for publications relevant for "Copy-number variant"
Copy-number variant
Publication
Class
Person
Publication
Programmes
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
First Faculty of Medicine
publication
Diagnostic implications of genetic copy number variation in epilepsy plus
2019 |
Second Faculty of Medicine
publication
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 |
Second Faculty of Medicine
publication
Genetic background in common forms of obesity - from studies on identical twins to candidate genes of obesity
2014 |
Faculty of Science, Central Library of Charles University
publication
Genome-wide association studies in schizophrenia, and potential etiological and functional implications of their results
2012 |
Faculty of Medicine in Hradec Králové
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics
2017 |
Faculty of Medicine in Hradec Králové
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
Publication without faculty affiliation
publication
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Publication without faculty affiliation
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
Second Faculty of Medicine
publication
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
2019 |
Second Faculty of Medicine
publication
Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450
2020 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Central Library of Charles University, Third 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
CNVs in patients with epilepsy - Czech experience
Publication without faculty affiliation
publication
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
First 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
Germline CDKN1B loss-of-function variants cause pediatric cushing's disease with or without an MEN4 phenotype
2020 |
Second Faculty of Medicine
publication
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
2023 |
First Faculty of Medicine
publication
Myoid gonadal stromal tumours are characterised by recurrent chromosome-level copy number gains: molecular assessment of a multi-institutional series
2023 |
Faculty of Medicine in Pilsen
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
Second Faculty of Medicine
publication
Concordance of DNA copy number profiles between primary and metastatic colorectal carcinoma
2022 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Pilsen