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MALE
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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
publication
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report
2016 |
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
Case report of patients with a marker chromosome
2004 |
Second Faculty of Medicine
publication
Medical genetics in reproductive medicine
2002 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
A dissecting aortic aneurysm in a female patient with Turner syndrome
2000 |
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
An inherited 2q13 deletion in a patient with Marfan syndrome
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
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