Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

por Gaillard, Linda, Goverde, Anne, van den Bosch, Quincy C. C., Jehee, Fernanda S., Brosens, Erwin, Veenma, Danielle, Magielsen, Frank, de Klein, Annelies, Mathijssen, Irene M. J., van Dooren, Marieke F.
Publicado 2021

Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis

por van Poppelen, Natasha M., van Ipenburg, Jolique A., van den Bosch, Quincy, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Magielsen, Frank, Dubbink, Hendrikus J., Paridaens, Dion, Brosens, Erwin, Naus, Nicole, de Klein, Annelies, Kiliç, Emine, Verdijk, Robert M.
Publicado 2021

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

por Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Publicado 2023

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado 2016

Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma

por Drabarek, Wojtek, van Riet, Job, Nguyen, Josephine Q. N., Smit, Kyra N., van Poppelen, Natasha M., Jansen, Rick, Medico-Salsench, Eva, Vaarwater, Jolanda, Magielsen, Frank J., Brands, Tom, Eussen, Bert, van den Bosch, Thierry. P. P., Verdijk, Robert M., Naus, Nicole C., Paridaens, Dion, de Klein, Annelies, Brosens, Erwin, van de Werken, Harmen J. G., Kilic, Emine
Publicado 2022

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

por Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
Publicado 2017