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RASopathy
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publication
Prenatal phenotype of RASopathies
2020 |
Publication without faculty affiliation
publication
Noonan syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy
2020 |
Second Faculty of Medicine
publication
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 |
Second Faculty of Medicine
publication
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
2014 |
Second Faculty of Medicine
publication
Endocrine and paediatric features of Noonan syndrom
2015 |
Faculty of Medicine in Hradec Králové
publication
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
2022 |
Second Faculty of Medicine
publication
Leopard syndrome in a newborn with severe hypertrophic cardiomyopathy
Publication without faculty affiliation
publication
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
2021 |
Second Faculty of Medicine
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
Second Faculty of Medicine
publication
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
2022 |
Second Faculty of Medicine