Noonan Syndrome : ScholarlyPaper. [elektronicky zdroj]

Autor: Acton, Q. Ashton

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on requests.)

Noonan syndrome and related disorders [electronic resource] : a matter of deregulated ras signaling / volume editor, Martin Zenker.

Externí odkaz: Kolekce e-knih KNAV Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on request.

Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.

Autor: Leenders, Erika K. S. M.¹ (AUTHOR), Kleimeier, Lotte E. R.² (AUTHOR), Weeke, Lauren C.² (AUTHOR), Coppens, Catelijne H.² (AUTHOR), Klein, Willemijn M.³ (AUTHOR), Draaisma, Jos M.T.² (AUTHOR) jos.draaisma@radboudumc.nl

Publikováno v: Clinical Case Reports. Jul2024, Vol. 12 Issue 7, p1-5. 5p.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Autor: Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Leenders EKSM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Braakman HMH; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Burgers MCJ; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Coppens CH; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Reintjes W; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Draaisma JMT; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63810. Date of Electronic Publication: 2024 Jul 03.

Noonan syndrome: rhGH treatment and PTPN11 mutation.

Autor: Wu, Xian¹ (AUTHOR), Wu, Jiali² (AUTHOR), Yuan, Yi¹ (AUTHOR), Yang, Li¹ (AUTHOR), Yu, Lirong¹ (AUTHOR) yulirong001@163.com

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2023, Vol. 11 Issue 11, p1-7. 7p.