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P30L mutation linked to gene conversion in CYP21 gene may cause severe form of CAH

, : P30L mutation linked to gene conversion in CYP21 gene may cause severe form of CAH. European Journal of Human Genetics 8(Supplement 1): 138, June


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Bourhis, J.; D.C.evoisier, R.; Abdulkarim, B.; Deutsch, E.; Lusinchi, A.; Luboinski, B.; Wibault, P.; Eschwege, F., 2000: A randomized study of very accelerated radiotherapy with and without amifostine in head and neck squamous cell carcinoma. Purpose: The aim of this study was to assess whether amifostine could minimize acute mucositis induced by a very accelerated irradiation regimen in patients with advanced head and neck squamous cell carcinoma (HNSCC). Methods and Materials: Betwee...

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Klein, L.A.; Koyle, M.; Berg, S., 1983: The emergency management of patients with ureteral calculi and fever. Patients presenting with ureteral calculi and fever were treated with antibiotics, fluids and careful monitoring. An emergency operation or ureteral manipulation was withheld until the patient became afebrile. In 14 patients so treated all became...

Walsh, B.Timothy.; Seidman, S.N.; Sysko, R.; Gould, M., 2002: Placebo response in studies of major depression: variable, substantial, and growing. Context: Intense debate persists about the need for placebo-controlled groups in clinical trials of medications for major depressive disorder (MDD). There is continuing interest in the development of new medications, but because effective antidepr...

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Kozlovsky, Y.; Kozlov, M.M., 2003: Membrane fission: model for intermediate structures. Membrane budding-fission is a fundamental process generating intracellular carriers of proteins. Earlier works were focused only on formation of coated buds connected to the initial membrane by narrow membrane necks. We present the theoretical ana...