X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32
Orth, U, Fairweather, N, Exler, M C, Schwinger, E, Gal, A
Published in Human molecular genetics (01.09.1994)
Published in Human molecular genetics (01.09.1994)
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Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
Seidel, J, Schiller, S, Kelbova, C, Beensen, V, Orth, U, Vogt, S, Claussen, U, Zintl, F, Rappold, GA
Published in Clinical genetics (01.02.2001)
Published in Clinical genetics (01.02.2001)
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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
Wicklein, Eva Maria, Orth, Ulrike, Gal, Andreas, Kunze, Klaus
Published in Journal of neurology, neurosurgery and psychiatry (01.09.1997)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.1997)
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Mutations in MERTK , the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Vollrath, Douglas, Gal, Andreas, Li, Yun, Thompson, Debra A, Weir, Jessica, Orth, Ulrike, Jacobson, Samuel G, Apfelstedt-Sylla, Eckart
Published in Nature genetics (01.11.2000)
Published in Nature genetics (01.11.2000)
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Feelings of Revenge, Retaliation Motive, and Posttraumatic Stress Reactions in Crime Victims
Orth, Ulrich, Montada, Leo, Maercker, Andreas
Published in Journal of interpersonal violence (01.02.2006)
Published in Journal of interpersonal violence (01.02.2006)
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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome
Wimplinger, Isabella, Morleo, Manuela, Rosenberger, Georg, Iaconis, Daniela, Orth, Ulrike, Meinecke, Peter, Lerer, Israela, Ballabio, Andrea, Gal, Andreas, Franco, Brunella, Kutsche, Kerstin
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis
Sperhake, J. P., Matschke, J., Orth, U., Gal, A., Püschel, K.
Published in International journal of legal medicine (15.02.2000)
Published in International journal of legal medicine (15.02.2000)
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Mapping of the Autosomal Dominant Exudative Vitreoretinopathy Locus (EVR1) by Multipoint Linkage Analysis in Four Families
Müller, Bertram, Orth, Ulrike, van Nouhuys, C.Erik, Duvigneau, Christine, Fuhrmann, Christian, Schwinger, Eberhard, Laqua, Horst, Gal, Andreas
Published in Genomics (San Diego, Calif.) (15.03.1994)
Published in Genomics (San Diego, Calif.) (15.03.1994)
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X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22
Mächler, M, Frey, D, Gal, A, Orth, U, Wienker, T F, Fanconi, A, Schmid, W
Published in Human genetics (01.07.1986)
Published in Human genetics (01.07.1986)
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Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy
Müller, M, Kusserow, C, Orth, U, Klär-Dissars, U, Laqua, H, Gal, A
Published in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (01.03.2008)
Published in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (01.03.2008)
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