Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Frank J Magielsen"'
Autor:
Yolande van Bever, Ruben G Boers, Hennie T Brüggenwirth, Wilfred Fj van IJcken, Frank J Magielsen, Annelies de Klein, Joachim B Boers, Leendert Hj Looijenga, Erwin Brosens, Joost Gribnau, Sabine E Hannema
Publikováno v:
Epigenetics, Vol 19, Iss 1 (2024)
In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypothesised tha
Externí odkaz:
https://doaj.org/article/71fec12029654280bacf538ebc935943
Autor:
Annechien E.G. Haarman, Caroline C.W. Klaver, Milly S. Tedja, Susanne Roosing, Galuh Astuti, Christian Gilissen, Lies H. Hoefsloot, Marianne van Tienhoven, Tom Brands, Frank J. Magielsen, Bert H.J.F.M.M. Eussen, Annelies de Klein, Erwin Brosens, Virginie J.M. Verhoeven
Publikováno v:
Ophthalmology science, 3(4):100303
Ophthalmology Science, 3
Ophthalmology Science, 3, 4
Ophthalmology Science, 3
Ophthalmology Science, 3, 4
Contains fulltext : 293290.pdf (Publisher’s version ) (Open Access) PURPOSE: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca04a72361fd924edfd7c71cba7dacff
https://pure.eur.nl/en/publications/c0c638d9-f21a-4536-9179-bb91b844a2ab
https://pure.eur.nl/en/publications/c0c638d9-f21a-4536-9179-bb91b844a2ab
Autor:
Wojtek Drabarek, Job van Riet, Josephine Q. N. Nguyen, Kyra N. Smit, Natasha M. van Poppelen, Rick Jansen, Eva Medico-Salsench, Jolanda Vaarwater, Frank J. Magielsen, Tom Brands, Bert Eussen, Thierry. P. P. van den Bosch, Robert M. Verdijk, Nicole C. Naus, Dion Paridaens, Annelies de Klein, Erwin Brosens, Harmen J. G. van de Werken, Emine Kilic, on behalf of the Rotterdam Ocular Melanoma Study Group
Publikováno v:
Cancers, Vol 14, Iss 846, p 846 (2022)
Cancers; Volume 14; Issue 3; Pages: 846
Cancers, 14(3):846. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers; Volume 14; Issue 3; Pages: 846
Cancers, 14(3):846. Multidisciplinary Digital Publishing Institute (MDPI)
Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor SF3B1, and whilst patients with such SF3B1 mutations generally have an intermediate risk on developing metastatic disease, a third of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787a0345a3edf8e9dd6265d1598a7580
https://www.mdpi.com/2072-6694/14/3/846
https://www.mdpi.com/2072-6694/14/3/846
Autor:
Erwin Brosens, Frank J. Magielsen, Anne Goverde, Linda Gaillard, Annelies de Klein, Fernanda Sarquis Jehee, Quincy C. C. van den Bosch, Danielle Veenma, Marieke F. van Dooren, Irene M.J. Mathijssen
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197c29d47915e1fe3e4d962bccdeb930
https://doi.org/10.3389/fped.2021.772800
https://doi.org/10.3389/fped.2021.772800
Autor:
Frank J. Magielsen, Hendrikus J. Dubbink, Dion Paridaens, Annelies de Klein, Robert M. Verdijk, Bert Eussen, Tom Brands, Natasha M. van Poppelen, Nicole C. Naus, Erwin Brosens, Quincy C. C. van den Bosch, Emine Kilic, Jolanda Vaarwater, Jolique A van Ipenburg
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5784, p 5784 (2021)
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22(11):5784. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 22
Issue 11
International Journal of Molecular Sciences, 22, 11
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22(11):5784. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 22
Issue 11
International Journal of Molecular Sciences, 22, 11
The aim of this study was exploration of the genetic background of conjunctival melanoma (CM) and correlation with recurrent and metastatic disease. Twenty-eight CM from the Rotterdam Ocular Melanoma Study group were collected and DNA was isolated fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc8936a7339d89f8fc1feaa819bae11
https://doi.org/10.3390/ijms22115784
https://doi.org/10.3390/ijms22115784