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Completed research (1)
Digital Author ID
(the most recent at the top)
Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivity.
Genotype versus phenotype in families with androgen insensitivity syndrome
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.
Completed research projects
(the most recent research is at the top)
Development and application of methods related to carrier studies and prenatal diagnostics
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Royal Netherlands Academy of Arts and Sciences
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