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molecular cytogenetics
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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 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
Molecular cytogenetic analysis of gonosomal aberrations
2003 |
Second Faculty of Medicine, Central Library of Charles University
publication
Medical genetics in reproductive medicine
2002 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Williams-Beuren syndrome
2000 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
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
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members
2020 |
Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
2019 |
Second Faculty of Medicine, Central Library of Charles University
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