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DIAGNOSTIKA
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Person
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prof. MUDr. Eva Seemanová DrSc.
External person at Second Faculty of Medicine
130 publications
Publications
publication
Li-Fraumeni Syndrome
2003 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers
1999 |
Second Faculty of Medicine
publication
Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
1999 |
Second Faculty of Medicine
publication
DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR
1998 |
Second Faculty of Medicine
publication
Introduction of molecular genetic diagnosis in syndromes with a hearing defect
1998 |
Second Faculty of Medicine
publication
DNA diagnostics of Friedrich's ataxia
1997 |
Second Faculty of Medicine
publication
A method for detection of germinal mutations in the p53 tumor suppressor gene
1996 |
Second Faculty of Medicine
publication
DNA diagnostika onemocnění způsobených amplifikací triplet repetitivních sekvencí
1995 |
Second Faculty of Medicine, Central Library of Charles University
publication
Možnosti přímé DNA diagnostiky Duchennovy a Beckerovy muskulární dystrofie v naší populaci
1995 |
Second Faculty of Medicine, Central Library of Charles University
publication
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation
2023 |
Second Faculty of Medicine
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