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ataxias
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doc. MUDr. Taťána Maříková CSc.
External person at Second Faculty of Medicine
63 publications
Publications
publication
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
2005 |
Second Faculty of Medicine
publication
Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population
2005 |
Second Faculty of Medicine
publication
Electrophysiological findings in patients with ataxia
2004 |
Second Faculty of Medicine
publication
Spinocerebellar ataxias - Problem of differential diagnosis
2003 |
Second Faculty of Medicine, Central Library of Charles University
publication
Spinocerebellar ataxias. Part II. Problematics of autosomal dominant spinocerebellar ataxias
2001 |
Second Faculty of Medicine
publication
Hereditary ataxias in the Czech Republic
1998 |
Second Faculty of Medicine, Central Library of Charles University
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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