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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
Second Faculty of Medicine, First 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
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology
2013 |
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
FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism
2010 |
Second Faculty of Medicine
publication
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
2007 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation
2006 |
Second Faculty of Medicine
publication
Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics
1999 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case report
Publication without faculty affiliation
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