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The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
Neuroendocrinology. 2018;106(2):167-186. doi: 10.1159/000477246. Epub 2017 May 12.
Neuroendocrinology. 2018.
PMID: 28494452
Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.
Toustrup LB, Zhou Y, Kvistgaard H, Gregersen N, Rittig S, Aagaard L, Corydon TJ, Luo Y, Christensen JH.
Toustrup LB, et al.
Stem Cell Res. 2017 Mar;19:37-42. doi: 10.1016/j.scr.2016.12.021. Epub 2016 Dec 24.
Stem Cell Res. 2017.
PMID: 28413003
Free article.
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GFR measurements and ultrasound findings in 154 children with a congenital solitary functioning kidney.
Jørgensen CS, Carstensen R, Awneh H, Frattari AMS, Borch L, Toustrup LB, Hagstrøm S, Kamperis K, Rittig S, Dufek-Kamperis S.
Jørgensen CS, et al. Among authors: toustrup lb.
J Pediatr Urol. 2023 Oct;19(5):624.e1-624.e7. doi: 10.1016/j.jpurol.2023.05.019. Epub 2023 Jun 3.
J Pediatr Urol. 2023.
PMID: 37353361
Free article.
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