C E de Die-Smulders
Maastricht University Medical Centre(NL)Maastricht University(NL)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → PLS3 Mutations in X-Linked Osteoporosis with Fractures(2013)199 cited
- → Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study(2013)182 cited
- Phenotypic variability of the cat eye syndrome. Case report and review of the literature.(2001)
- → Phenotypic and molecular insights into CASK-related disorders in males(2015)85 cited
- → The unfolding clinical spectrum of POLG mutations(2009)85 cited
- → Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres(2011)61 cited