Search Results - "Orth, U"

Quality signals in wine marketing: the role of exhibition awards by Orth, U.R., Krška, P.

“…Wine producers have their products evaluated at various wine exhibitions for the purpose of receiving awards that can be displayed on the bottles. This…”
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Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death by Edler, C, Saeger, W, Orth, U, Braun, C, Wulff, B, Sperhake, J

“…Hereditary amyloidoses present a clinically and genetically heterogeneous group of autosomal dominant diseases. The most frequent form is associated with…”
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Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA by Hübner, C.A., Senning, A., Orth, U., Zerres, K., Urbach, H., Gal, A., Rudnik-Schöneborn, S.

“…We describe a 28-year-old male patient with a mild course of Pelizaeus-Merzbacher disease (PMD) who presented with developmental delay in his second year of…”
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Secondary Victimization of Crime Victims by Criminal Proceedings by Orth, Uli

“…It is conceivable that criminal proceedings cause psychological harm to the crime victims involved, that is, cause secondary victimization. To investigate this…”
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Three novel PAX6 mutations in patients with aniridia by Zumkeller, W, Orth, U, Gal, A

“…Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families. Methods: The PAX6 gene was analysed using single…”
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X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32 by Orth, U, Fairweather, N, Exler, M C, Schwinger, E, Gal, A

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Punishment Goals of Crime Victims by Orth, Uli

“…Research on subjective punishment goals has focused on the perspective of third-party observers of criminal offenses and neglected the perspective of victims…”
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Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation by Seidel, J, Schiller, S, Kelbova, C, Beensen, V, Orth, U, Vogt, S, Claussen, U, Zintl, F, Rappold, GA

“…Here we report an 8‐year‐old male patient who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. Chromosomal…”
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Does perpetrator punishment satisfy victims' feelings of revenge? by Orth, Ulrich

“…Criminal victimization often provokes strong feelings of revenge. Two studies were conducted to investigate whether legal punishment of the perpetrator reduces…”
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Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected by Wicklein, Eva Maria, Orth, Ulrike, Gal, Andreas, Kunze, Klaus

“…A small family with sensorimotor neuropathy of dominant inheritance was examined. All three affected members were female. They had unusually severe symptoms…”
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Mutations in MERTK , the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa by Vollrath, Douglas, Gal, Andreas, Li, Yun, Thompson, Debra A, Weir, Jessica, Orth, Ulrike, Jacobson, Samuel G, Apfelstedt-Sylla, Eckart

“…Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer…”
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Feelings of Revenge, Retaliation Motive, and Posttraumatic Stress Reactions in Crime Victims by Orth, Ulrich, Montada, Leo, Maercker, Andreas

“…Individuals with posttraumatic stress disorder (PTSD) are often said to experience strong feelings of revenge. However, there is a need for confirmatory…”
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A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome by David, Dezsö, Orth, Ulrike, Heilbronner, Helmut, Gal, Andreas

“…X-linked hyper-IgM syndrome (HIGMX) is a rare immunodeficiency due to the lack of immunoglobulin isotype switching of B cells leading to normal or elevated…”
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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome by Wimplinger, Isabella, Morleo, Manuela, Rosenberger, Georg, Iaconis, Daniela, Orth, Ulrike, Meinecke, Peter, Lerer, Israela, Ballabio, Andrea, Gal, Andreas, Franco, Brunella, Kutsche, Kerstin

“…The microphthalmia with linear skin defects syndrome (MLS, or MIDAS) is an X-linked dominant male-lethal disorder almost invariably associated with segmental…”
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Boundary-layer transition on a cylinder with and without separation bubbles by PFEIL, H, ORTH, U

“…Boundary layer transition with and without transitional separation bubbles was investigated on a cylinder in cross flow. Measurements of the pressure…”
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Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis by Sperhake, J. P., Matschke, J., Orth, U., Gal, A., Püschel, K.

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Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families by Müller, B, Orth, U, van Nouhuys, C E, Duvigneau, C, Fuhrmann, C, Schwinger, E, Laqua, H, Gal, A

“…Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. The disease locus has…”
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X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22 by MACHLER, M, FREY, D, GAL, A, ORTH, U, WIENKER, T. F, FANCONI, A, SCHMID, W

“…Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined…”
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Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy by Müller, M, Kusserow, C, Orth, U, Klär-Dissars, U, Laqua, H, Gal, A

“…Autosomal dominant (familial) exudative vitreoretinopathy (adEVR) is a rare, congenital disease of the retinal vascular system, which may lead to blindness in…”
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Do Trials of Perpetrators Retraumatize Crime Victims? by Orth, Ulrich, Maercker, Andreas

“…Attendance at trials of perpetrators could be retraumatizing for crime victims suffering from posttraumatic stress disorder. To investigate this hypothesis,…”
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