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A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus.
Rutishauser J, Böni-Schnetzler M, Böni J, Wichmann W, Huisman T, Vallotton MB, Froesch ER. Rutishauser J, et al. J Clin Endocrinol Metab. 1996 Jan;81(1):192-8. doi: 10.1210/jcem.81.1.8550751. J Clin Endocrinol Metab. 1996. PMID: 8550751
Endoplasmic reticulum storage diseases.
Rutishauser J, Spiess M. Rutishauser J, et al. Swiss Med Wkly. 2002 May 4;132(17-18):211-22. Swiss Med Wkly. 2002. PMID: 12087487 Review.
Genetic forms of neurohypophyseal diabetes insipidus.
Rutishauser J, Spiess M, Kopp P. Rutishauser J, et al. Best Pract Res Clin Endocrinol Metab. 2016 Mar;30(2):249-62. doi: 10.1016/j.beem.2016.02.008. Epub 2016 Feb 18. Best Pract Res Clin Endocrinol Metab. 2016. PMID: 27156762 Review.
75 results