Wim J. Kleijer

Genotype<i>Versus</i>Phenotype in Families with Androgen Insensitivity Syndrome

Annemie L. M. Boehmer, Hennie T. Brüggenwirth, Cissy van Assendelft et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 287 citations · Full text

Infertility, Phenotypic Variation, Genetic Disorder +14

Genotype–phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies

Susanna Bunge, Peter R. Clements, Sharon Byers et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1998 · 84 citations

Enzyme Kinetics, Mucopolysaccharidosis Type, Immunodeficiencies +6

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Susanna Bunge, Hüseyin İnce, Cordula Steglich et al. · Human Mutation · 1997 · 71 citations

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer et al. · Human Genetics · 1996 · 59 citations

Developmental Anomaly, Developmental Biology, Diastrophic Dysplasia +6