ℹ️
🇬🇧
Search
Search for publications relevant for "Noonan"
Noonan
Publication
Class
Person
Publication
Programmes
publication
Noonan's syndrome - common among "rare diseases"
2020 |
Second Faculty of Medicine
publication
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 syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy
2020 |
Second Faculty of Medicine
publication
Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn
2020 |
Faculty of Medicine in Pilsen
publication
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
2021 |
Second Faculty of Medicine
publication
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
2014 |
Second Faculty of Medicine
publication
Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Mathematics and Physics
publication
Noonan syndrome with multiple lentigines and congenital myotonic dystrophy type I in a newborn
2019 |
Faculty of Medicine in Pilsen
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
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 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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
Prenatal phenotype of RASopathies
2020 |
Publication without faculty affiliation
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
publication
A restricted spectrum of NRAS mutations causes Noonan syndrome
2010 |
Second Faculty of Medicine
publication
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
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 Mathematics and Physics, Faculty of Science
publication
Atrial septal defect - inproper for transcatheter occlussion
+1
2004 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Valvular congenital heart defects in echocardiographic imagine
2004 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Polyarticular Form of Pigmented Villonodular Synovitis. Radiation and Surgical Therapy: Long Term Follow-up
2008 |
Publication without faculty affiliation
publication
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
2009 |
Second Faculty of Medicine
publication
Polyarticular Form of Pigmented Villonodular Synovitis. Radiation and Surgical Therapy: Long Term Follow-up
2008 |
First Faculty of Medicine
publication
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
2010 |
Second Faculty of Medicine
publication
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases
2019 |
Third Faculty of Medicine
publication
Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome
2014 |
Second Faculty of Medicine
publication
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia
2017 |
Second Faculty of Medicine