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symptomatika
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RNDr. Zuzana Slámová Ph.D.
External academic staff at Second Faculty of Medicine
9 publications
Publications
publication
Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem
2019 |
Second Faculty of Medicine
publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
2014 |
Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
2012 |
Second Faculty of Medicine
publication
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
publication
Intronic microduplications of RBFOX1 gene and their phenotypic consequences
Publication without faculty affiliation
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