Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Renée L. Roelofs"'
Autor:
Ellen Wingbermühle, Renée L. Roelofs, Wouter Oomens, Jennifer Kramer, Jos M. T. Draaisma, Erika Leenders, Tjitske Kleefstra, Roy P. C. Kessels, Jos I. M. Egger
Publikováno v:
Journal of Clinical Medicine, 11, 16
Journal of Clinical Medicine; Volume 11; Issue 16; Pages: 4735
Journal of Clinical Medicine, 11
Journal of Clinical Medicine; Volume 11; Issue 16; Pages: 4735
Journal of Clinical Medicine, 11
Contains fulltext : 253001.pdf (Publisher’s version ) (Open Access) Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings are based on studies in which patients with variants in PTP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211e0a0c15ac7172780c544d68811146
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/253001
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/253001
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
