Novel compound heterozygous synaptojanin‐1 mutation causes l‐dopa‐responsive dystonia‐parkinsonism syndrome
Rauschendorf, Marc‐Alexander, Jost, Meike, Stock, Friedrich, Zimmer, Andreas, Rösler, Bernd, Rijntjes, Michel, Piroth, Tobias, Coenen, Volker Arnd, Reinacher, Peter Christoph, Meyer, Philipp T., Frings, Lars, Weiller, Cornelius, Fischer, Judith, Klebe, Stephan
Published in Movement disorders (01.03.2017)
Published in Movement disorders (01.03.2017)
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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
Botzenhart, Elke M., Green, Andrew, Ilyina, Helena, König, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
Kim, Gwang-Jin, Sock, Elisabeth, Buchberger, Astrid, Just, Walter, Denzer, Friederike, Hoepffner, Wolfgang, German, James, Cole, Trevor, Mann, Jillian, Seguin, John H, Zipf, William, Costigan, Colm, Schmiady, Hardi, Rostásy, Moritz, Kramer, Mildred, Kaltenbach, Simon, Rösler, Bernd, Georg, Ina, Troppmann, Elke, Teichmann, Anne-Christin, Salfelder, Anika, Widholz, Sebastian A, Wieacker, Peter, Hiort, Olaf, Camerino, Giovanna, Radi, Orietta, Wegner, Michael, Arnold, Hans-Henning, Scherer, Gerd
Published in Journal of medical genetics (01.04.2015)
Published in Journal of medical genetics (01.04.2015)
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Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A
Rauschendorf, Marc‐Alexander, Zimmer, Andreas D., Laut, Astrid, Demmer, Philipp, Rösler, Bernd, Happle, Rudolf, Sartori, Silvina, Fischer, Judith
Published in Pigment cell and melanoma research (01.01.2019)
Published in Pigment cell and melanoma research (01.01.2019)
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Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris
Has, Cristina, Schwieger-Briel, Agnes, Schlipf, Nina, Hausser, Ingrid, Chmel, Nadja, Rösler, Bernd, Technau, Kristin, Jakob, Thilo, Zimmer, Andreas, Fischer, Judith
Published in Acta dermato-venereologica (02.11.2016)
Published in Acta dermato-venereologica (02.11.2016)
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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Kohlhase, Jürgen, Chitayat, David, Kotzot, Dieter, Ceylaner, Serdar, Froster, Ursula G., Fuchs, Sigrun, Montgomery, Tara, Rösler, Bernd
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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PROCESS FOR PREPARING (5S)-{[2-(4-CARBOXYPHENYL)ETHYL] 2-(2-{ 3-CHLORO-4'-(TRIFLUOROMETHYL)BIPHENYL-4- YL]METHOXY}PHENYL)ETHYL]AMINOL-5,6,7,8-TETRAHYDROQUINOLINE-2-CARBOXYLIC ACID AND ITS CRYSTALLINE FORMS FOR USE AS PHARMACEUTICALLY ACTIVE COMPOUND
OLENIK, Britta, KEIL, Birgit, FABER, Helene, EGGER, Julian, BECKER, Guido, FEY, Peter, RÖSLER, Bernd, BOTHE, Clemens, SCHIRMER, Heiko
Year of Publication 06.11.2024
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Year of Publication 06.11.2024
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PROCESS FOR PREPARING (5S)-{[2-(4-CARBOXYPHENYL)ETHYL] |2-(2-{|3-CHLORO-4'-(TRIFLUOROMETHYL)BIPHENYL-4- YL]METHOXY}PHENYL)ETHYL]AMINOL-5,6,7,8-TETRAHYDROQUINOLINE-2-CARBOXYLIC ACID AND ITS CRYSTALLINE FORMS FOR USE AS PHARMACEUTICALLY ACTIVE COMPOUND
OLENIK, Britta, KEIL, Birgit, FABER, Helene, EGGER, Julian, BECKER, Guido, FEY, Peter, RÖSLER, Bernd, BOTHE, Clemens, SCHIRMER, Heiko
Year of Publication 04.07.2024
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Year of Publication 04.07.2024
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