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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
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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
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Year of Publication 22.11.2022
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Year of Publication 22.11.2022
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Novel compound heterozygous synaptojanin‐1 mutation causes l‐dopa‐responsive dystonia‐parkinsonism syndrome
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Published in Movement disorders (01.03.2017)
Published in Movement disorders (01.03.2017)
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Peginterferon alone or with ribavirin enhances HCV-specific CD4 T-helper 1 responses in patients with chronic hepatitis C
Kamal, Sanaa M, Fehr, Jutta, Roesler, Bernd, Peters, Thomas, Rasenack, Jens W
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2002)
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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)
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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Bisschoff, Izak J., Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Katrina E., Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J.
Published in Human mutation (01.01.2013)
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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)
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability
Bisschoff, Izak J, Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Trine E, Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J
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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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CRYSTAL FORMS OF METHYL(2R,4R)-4-[[(5S)-3-(3,5-DIFLUOROPHENYL)-5-VINYL-4H-ISOXAZOLE-5-CARBONYL]AMINO]TETRAHYDROFURAN-2-CARBOXYLATE AND THEIR HERBICIDAL SYNERGISTIC EFFECTS
OLENIK, Britta, KEIL, Birgit, HAAF, Klaus Bernhard, LORENTZ, Lothar, ROESLER, Bernd
Year of Publication 06.04.2023
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Year of Publication 06.04.2023
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Crystal forms of methyl(2R,4R)-4-[[(5S)-3-(3,5-difluorophenyl)-5-vinyl-4H-isoxazole-5-carbonyl]amino]tetrahydrofuran-2-carboxylate and their herbicidal synergistic effects
ROESLER, BERND, KEIL, BIRGIT, LORENTZ, LOTHAR, BERNHARD, KLAUS, OLENIK, BRITTA
Year of Publication 16.01.2022
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Year of Publication 16.01.2022
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Process for preparing (5S)-{[2-(4-carboxyphenyl)ethyl][2-(2-{[3-chloro-4'-(trifluoromethyl)biphenyl-4-yl]methoxy}phenyl)ethyl]amino}-5,6,7,8-tetrahydroquinoline-2-carboxylic acid and its crystalline forms for use as pharmaceutically active compound
ROESLER, BERND, FEY, PETER, SCHIRMER, HEIKO, BOTHE, CLEMENS, KEIL, BIRGIT, OLENIK, BRITTA, FABER, HELENE, BECKER, GUIDO, EGGER, JULIAN
Year of Publication 01.11.2023
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Year of Publication 01.11.2023
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Treatment of cardiopulmonary disorders
PARRY, MARK, ROESLER, BERND, WARD, DAVID, RICHTER, ANNETT, MUNDRY, TOBIAS, BOTHE, CLEMENS, NAGELSCHMITZ, JOHANNES, OLENIK, BRITTA, FABER, HELENE, BECKER-PELSTER, EVA MARIA, BECKER, GUIDO, EGGER, JULIAN, HAHN, MICHAEL, FEY, PETER, SCHIRMER, HEIKO, KEIL, BIRGIT, TEREBESI, ILDIKO, LANG, DIETER, JUNG, DAVID, VITRE, CECILE, TINEL, HANNA, WEIMANN, GERRIT, SALEH, SOUNDOS, DIETZ, LISA
Year of Publication 01.11.2023
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Year of Publication 01.11.2023
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Pharmaceutical dry powder inhalation formulation
PARRY, MARK, ROESLER, BERND, WARD, DAVID, RICHTER, ANNETT, MUNDRY, TOBIAS, BOTHE, CLEMENS, OLENIK, BRITTA, FABER, HELENE, NAGELSCHMITZ, JOHANNES, BECKER, GUIDO, BECKER-PELSTER, EVA MARIA, EGGER, JULIAN, HAHN, MICHAEL, FEY, PETER, SCHIRMER, HEIKO, KEIL, BIRGIT, TEREBESI, ILDIKO, LANG, DIETER, JUNG, DAVID, VITRE, CECILE, TINEL, HANNA, WEIMANN, GERRIT, SALEH, SOUNDOS, DIETZ, LISA
Year of Publication 01.11.2023
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Year of Publication 01.11.2023
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