Research output per year
Research output per year
Search results
-
2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access1 Citation (Scopus) -
2021
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access9 Citations (Scopus)