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Noonan syndrome
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Endocrine and paediatric features of Noonan syndrom
2015 |
Faculty of Medicine in Hradec Králové
publication
And your diagnosis? 1st part. (Protracted febrility with dyspnoea at Noonan's syndrome girl)
2005 |
Publication without faculty affiliation
publication
And your diagnosis? 2nd part. (Protracted febrility with dyspnoea at Noonan's syndrome girl)
2005 |
Publication without faculty affiliation
publication
Noonan's syndrome - common among "rare diseases"
2020 |
Second Faculty of Medicine
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
2021 |
Second Faculty of Medicine
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Noonan syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy
2020 |
Second Faculty of Medicine
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Noonan syndrome with multiple lentigines and congenital myotonic dystrophy type I in a newborn
2019 |
Faculty of Medicine in Pilsen
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
Second Faculty of Medicine
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 |
Second Faculty of Medicine
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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
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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
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Prenatal phenotype of RASopathies
2020 |
Publication without faculty affiliation
publication
Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn
2020 |
Faculty of Medicine in Pilsen
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
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A restricted spectrum of NRAS mutations causes Noonan syndrome
2010 |
Second Faculty of Medicine
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Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
2022 |
Second Faculty of Medicine
publication
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
2005 |
Second Faculty of Medicine
publication
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
2009 |
Second Faculty of Medicine
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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
2010 |
Second Faculty of Medicine
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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases
2019 |
Third Faculty of Medicine
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Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt
2018 |
Second Faculty of Medicine, Faculty of Science, Faculty of Mathematics and Physics
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Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
2014 |
Second Faculty of Medicine
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Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome
2014 |
Second Faculty of Medicine
publication
Eva Seemanova 80 Years - International Medical Genetics, Prague 1971-2016
2019 |
Second Faculty of Medicine