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chromothripsis
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doc. MUDr. Taťána Maříková CSc.
External person at Second Faculty of Medicine
63 publications
Publications
publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
The importance of advanced parental age in the origin of neurofibromatosis type 1
2012 |
Second Faculty of Medicine
publication
Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene
2009 |
Second Faculty of Medicine
publication
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
2009 |
Second Faculty of Medicine
publication
Point mutations in Czech DMD/BMD patients and their phenotypic outcome
2009 |
Second Faculty of Medicine
publication
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1
2007 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
The brain MR imaging in patients with myotonic dystrophy DM 1
2007 |
Second Faculty of Medicine
publication
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
2007 |
Second Faculty of Medicine
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