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au.\*:("KAMSTEEG, E. J")

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Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidusKAMSTEEG, E. J; DEEN, P. M. T.American journal of physiology. Renal physiology. 2000, Vol 48, Num 4, pp F778-F784, issn 1931-857XArticle

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin―neurophysin II geneDE FOST, M; VAN TROTSENBURG, Asp; VAN SANTEN, H. M et al.European journal of endocrinology. 2011, Vol 165, Num 1, pp 161-165, issn 0804-4643, 5 p.Article

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesMENKO, F. H; KNEEPKENS, C. M. F; JANSWEIJER, M. C et al.Clinical genetics. 2008, Vol 74, Num 2, pp 145-154, issn 0009-9163, 10 p.Article

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of casesHOFSTRA, R. M. W; STELWAGEN, T; LIPS, C. J. M et al.The Journal of clinical endocrinology and metabolism. 1996, Vol 81, Num 8, pp 2881-2884, issn 0021-972XArticle

Defective processing and trafficking of water channels in nephrogenic diabetes insipidusKAMSTEEG, E. J; DEEN, P. M. T; VAN OS, C. H et al.Experimental nephrology. 2000, Vol 8, Num 6, pp 326-331, issn 1018-7782Article

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testingDØRUM, A; MØLLER, P; VAN DER MEULEN, M. A et al.European journal of cancer (1990). 1997, Vol 33, Num 14, pp 2390-2392, issn 0959-8049Article

Autosomal Recessive Inheritance of GLUT1 Deficiency SyndromeKLEPPER, J; SCHEFFER, H; ELSAID, M. F et al.Neuropediatrics. 2009, Vol 40, Num 5, pp 207-210, issn 0174-304X, 4 p.Article

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)HOFSTRA, R. M. W; OSINGA, J; MEIJERS, C et al.Nature genetics. 1996, Vol 12, Num 4, pp 445-447, issn 1061-4036Article

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