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Endocrinology, Diabetes & Metabolism Case Reports|October 31, 2015
A patient with novel mutations causing MEN1 and hereditary multiple osteochondromaHanna Remde, Elke Kaminsky, Mathias Werner, et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|July 7, 2020
Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of LiteratureLara L I Feldkamp, Elke Kaminsky, Tina Kienitz, et al.
Endocrinology, Diabetes & Metabolism Case Reports|September 20, 2017
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenitaJudith Gerards, Michael M Ritter, Elke Kaminsky, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Czech dysplasia: report of a large family and further delineation of the phenotypeAndreas Tzschach, Sigrid Tinschert, Elke Kaminsky, et al.
Clinical Dysmorphology|March 23, 2010
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literatureIrina Stefanova, Jutta Jenderny, Elke Kaminsky, et al.
Endocrine Journal|June 8, 2011
Cushing's disease in a patient with steroid 21-hydroxylase deficiencyMatthias Haase, Matthias Schott, Elke Kaminsky, et al.
Gene|June 5, 2013
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndromeSonja Beicht, Gertrud Strobl-Wildemann, Sabine Rath, et al.
The Journal of Molecular Diagnostics : JMD|February 7, 2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann, Stefanie Vogt, Siegfried Uhlhaas, et al.
The Journal of Clinical Endocrinology and Metabolism|January 22, 2010
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiencySilvia Parajes, Lourdes Loidi, Nicole Reisch, et al.
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