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2022
Mark Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing
Van Den Bersselaar, Luuk R. ; Hellblom, Anna ^LU ; Gashi, Mejdan ; Kamsteeg, Erik Jan ; Voermans, Nicol C. ; Jungbluth, Heinz ; De Puydt, Joris ; Heytens, Luc ; Riazi, Sheila and Snoeck, Marc M.J. (2022) In Anesthesiology 136(6). p.940-953
- Contribution to journal › Article
Mark De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena ; Edani, Ban H ; Martinelli, Simone ; Hansikova, Hana ; Eklund, Erik A ^LU ; Caputi, Caterina ; Masuelli, Laura ; Corsten-Janssen, Nicole ; Srour, Myriam and Oegema, Renske , et al. (2022) In Brain : a journal of neurology 145(1). p.208-223
- Contribution to journal › Article
2020
Mark De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Wijnen, Iris G.M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur ; Gerkes, Erica H. ; de Koning, Tom ^LU ; Vos, Yvonne J. ; Tijssen, Marina A.J. ; Sival, Deborah ; Darin, Niklas and Vanhoutte, Els K. , et al. (2020) In European Journal of Human Genetics 28(6). p.763-769
- Contribution to journal › Article
2018
Mark PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
Régal, Luc ; Mårtensson, Emma ^LU ; Maystadt, Isabelle ; Voermans, Nicol ; Lederer, Damien ; Burlina, Alberto ; Juan Fita, María Jesús ; Hoogeboom, A. Jeannette M. ; Olsson Engman, Mia and Hollemans, Tess , et al. (2018) In Genetics in Medicine 20(1). p.109-118
- Contribution to journal › Article