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Germ-Line Mutation
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doc. MUDr. Taťána Maříková CSc.
External person at Second Faculty of Medicine
63 publications
Publications
publication
A method for detection of germinal mutations in the p53 tumor suppressor gene
1996 |
Second Faculty of Medicine
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
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