ℹ️
🇬🇧
Search
Search for people relevant for "the Commons"
the Commons
Person
Class
Person
Publication
Programmes
RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
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
publication
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
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
Early development of immunity in diGeorge syndrome
2005 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Diagnosis of chromosomal aberrations (cytogenetic examination and its importance in medicine)
2002 |
Second Faculty of Medicine
publication
An inherited 2q13 deletion in a patient with Marfan syndrome
Publication without faculty affiliation
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
Publication without faculty affiliation
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
Load more publications (40)
Loading network view...