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pro vyhledávání: '"Dagmar K. Tiemens"'
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
Autor:
Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype i
Externí odkaz:
https://doaj.org/article/8e92a1191a724fcd889347982f848af1
Autor:
Dagmar K. Tiemens, Jacqueline Nugteren, Erika Leenders, Ellen Wingbermühle, Carina A. C. M. Pittens, Jos M. Th. Draaisma
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. Because of a highly heterogeneity and variable phenotypical manifestations of the disorders, these children
Externí odkaz:
https://doaj.org/article/c4a5eb2d7b1e4cf9a0053bbdd148cd6d
Autor:
Dagmar K. Tiemens, Leenke van Haaften, Erika Leenders, Annemiek M. J. van Wegberg, Bregtje Gunther Moor, Joyce Geelen, Jos M. T. Draaisma
Publikováno v:
Journal of Clinical Medicine, 11
Journal of Clinical Medicine, Vol 11, Iss 754, p 754 (2022)
Journal of Clinical Medicine, 11, 3
Journal of Clinical Medicine, Vol 11, Iss 754, p 754 (2022)
Journal of Clinical Medicine, 11, 3
Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions. Feeding problems are often present not only in infancy but also in childhood, and even beyond that period.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2dded7802254cc63eb4afdd90f4e87
http://hdl.handle.net/2066/247671
http://hdl.handle.net/2066/247671
