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FBN1
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publication
Effect of a novel intronic FBN1 mutation on splicing revealed by splicing minigene assay
Publication without faculty affiliation
publication
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
2014 |
First Faculty of Medicine
publication
Delece 2q13 u pacienta s Marfanovým syndromem
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport
publication
Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor
2020 |
Second Faculty of Medicine
publication
An inherited 2q13 deletion in a patient with Marfan syndrome
Publication without faculty affiliation
publication
Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families
2018 |
Second Faculty of Medicine
publication
Growth plate disorders causing familiar short stature
2018 |
Second Faculty of Medicine
publication
Inflammatory response after ExoVasc (R) personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy
2021 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové