V.V.A.M. Knoers

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Angenita F. van Lieburg, Marian Verdijk, V.V.A.M. Knoers et al. · PubMed · 1994 · 206 citations

Life Sciences, Genetics, Molecular Genetics +16

Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus

J.A. Hoekstra, A.F. van Lieburg, L.A.H. Monnens et al. · American Journal of Medical Genetics · 1996 · 84 citations · Full text

Medicine, Endocrinology, Psychology +13

Normal Fibrinolytic Responses to 1 -Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes insipidus Caused by Mutations in the Aquaporin 2 Gene

A.F. van Lieburg, V.V.A.M. Knoers, R. Mallmann et al. · ˜The œNephron journals/Nephron journals · 2008 · 32 citations

Medicine, Nephrology, Physiology +13

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region

A.M.W. van den Ouweland, Marie-Theres Knoop, V.V.A.M. Knoers et al. · Genomics · 1992 · 30 citations

Medicine, Genetics, Molecular Genetics +8

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse et al. · European Journal of Pediatrics · 2023 · 28 citations · Full text

Life Sciences, Genetics, Pediatrics +17