Joris Fuijkschot

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Anke P. Willems, Mehmet Gundogdu, Marlies Kempers et al. · Journal of Biological Chemistry · 2017 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Speech-language performance in Sjögren-Larsson syndrome

Joris Fuijkschot, Ben Maassen, Jan Willem Gorter et al. · Developmental Neurorehabilitation · 2009 · 47 citations

Education, Neurology, Speech-language Pathology +15

Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography

Joris Fuijkschot, J.R.M. Cruysberg, Michèl A.A.P. Willemsen et al. · Ophthalmology · 2007 · 46 citations

Medicine, Neurology, Ophthalmology +16

Validation of a Paediatric Early Warning Score: first results and implications of usage

Joris Fuijkschot, Bastiaan Vernhout, Joris Lemson et al. · European Journal of Pediatrics · 2014 · 41 citations

Medicine, Child Health, Pediatrics +9

Effective low–dose sirolimus regimen for kaposiform haemangioendothelioma with Kasabach–Merritt phenomenon in young infants

Veroniek E. M. Harbers, Nathalie van der Salm, Sjoert Pegge et al. · British Journal of Clinical Pharmacology · 2021 · 30 citations · Full text

Pharmacy, Pharmacokinetics, Pharmacology +10