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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
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
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report
2016 |
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
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
Diagnostic possibilities of Prader-Willi and of Angelman syndromes
2005 |
Second Faculty of Medicine
publication
Chromosomal examination in medicine
2002 |
Second Faculty of Medicine
publication
Diagnosis of chromosomal aberrations (cytogenetic examination and its importance in medicine)
2002 |
Second Faculty of Medicine
publication
Williams-Beuren syndrome
2000 |
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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