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syndrome
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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
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
publication
Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem
2019 |
Second Faculty of Medicine
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
Duplikace genu PMP22 u pacientky se syndromem Potocki-Lupski
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Delece 2q13 u pacienta s Marfanovým syndromem
2017 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Mathematics and Physics
publication
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
2015 |
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
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