Kambridge P Hribar

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BACKGROUND Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various defects of other neural crest derived tissues. It accounts for over 2% of congenital hearing impairment. At least four types are recognized on the basis of clinical and genetic criteria. PATIENTS AND METHODS(More)
Collaboration is at the center of the process used to design, implement and evaluate an integrated informatics curriculum in a baccalaureate nursing program. This paper describes the second stage of a process to design the informatics nursing courses. The challenges to foster faculty collaborative relationships as well as to enhance the course content of(More)
Although not required for the diagnosis, crystalloids of Reinke are pathognomonic for Leydig cell tumor. However, conventional frozen section rarely reveals their presence. A method of rapid identification of crystalloids of Reinke could improve the intraoperative diagnosis. We tested the efficacy of touch imprints and scrape smears for the identification(More)
Dysfunction of fluid and electrolyte homeostasis is considered to cause variety of inner ear disorders. One group of candidate proteins that may play a critical role in the inner ear fluid homeostasis is the aquaporins, a family of proteins whose members have well defined roles in fluid transport in variety of organs. This study reports the identification(More)
Das Waardenburg-Syndrom (WS) ist eine autosomal vererbte Erkrankung, welche definiert ist durch Pigmentanomalien in der Haut, den Haaren, den Augen sowie der Stria vascularis. Klinisch und genetisch werden derzeit 4 Typen des WS unterschieden. Diese repräsentieren ca. 2% der kongenitalen Schwerhörigkeiten. Im Rahmen der Untersuchung kongenital schwerhöriger(More)
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