The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

Autor: Tiemens DK; Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Kleimeier L; Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Wingbermühle E; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Amalia Children's Hospital Nijmegen, Nijmegen, The Netherlands., Roelofs RL; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Amalia Children's Hospital Nijmegen, Nijmegen, The Netherlands., Sibbles B; Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands., Oostwegel FSM; Faculty of Earth and Life Science, Athena Institute for Research on Innovation and Communication in Health and Life Sciences, VU University, Amsterdam, The Netherlands., Vroonland E; PGOsupport, Utrecht, The Netherlands., van Leeuwen C; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Niessen H; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Sonnega P; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Duursma A; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Willemsen MAAP; Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; Department of Pediatrics, Donders Institute for Brain, Cognition and Behavior, Amalia Children's Hospital Nijmegen, Nijmegen, The Netherlands., Draaisma JMT; Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands. Jos.draaisma@radboudumc.nl., Pittens CACM; Faculty of Earth and Life Science, Athena Institute for Research on Innovation and Communication in Health and Life Sciences, VU University, Amsterdam, The Netherlands.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 198. Date of Electronic Publication: 2023 Jul 21.

Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review.

Autor: Tiemens DK; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands., Nugteren J; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wingbermühle E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Centre of Excellence for Neuropsychiatry, Vincent Van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands., Pittens CACM; Faculty of Science, Athena Institute, VU University, Amsterdam, The Netherlands., Draaisma JMT; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. jos.draaisma@radboudumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 26; Vol. 16 (1), pp. 449. Date of Electronic Publication: 2021 Oct 26.