Hermine A. van Duyvenvoorde

Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

M.J.E. Walenkamp, Marcel Karperien, Alberto M. Pereira et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 314 citations · Full text

Medicine, Endocrinology, Genetics +17

A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

M.J.E. Walenkamp, H.J. van der Kamp, Alberto M. Pereira et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 146 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Wietske A. Ester, Hermine A. van Duyvenvoorde, C.C. de Wit et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 112 citations

Medicine, Genetics, Molecular Genetics +17

An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Bregje W.M. van Bon, David A. Koolen, Renato Borgatti et al. · Journal of Medical Genetics · 2008 · 98 citations

Life Sciences, Genetics, Molecular Genetics +17