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Syndromes
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doc. MUDr. Taťána Maříková CSc.
External person at Second Faculty of Medicine
63 publications
Publications
publication
Diagnostic possibilities of Prader-Willi and of Angelman syndromes
2005 |
Second Faculty of Medicine
publication
Case report of patients with a marker chromosome
2004 |
Second Faculty of Medicine
publication
Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
1999 |
Second Faculty of Medicine
publication
A method for detection of germinal mutations in the p53 tumor suppressor gene
1996 |
Second Faculty of Medicine
publication
Identifikace vrozené mutace v genu pro protein p53 v rodině s Li-Fraumeni syndromem
1995 |
Second Faculty of Medicine
publication
Identifikace vrozené mutace v genu pro protein p53 v rodině s LiFraumeni syndromem
1995 |
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
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