检索结果 - Almuth Caliebe

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  1. 1
    Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

    Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2 由 Katja, Kloth, Inga, Vater, Ramona, Lindschau, Almuth, Caliebe, Maria, Muschol Nicole

    出版 2020
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  2. 2
    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome 由 Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

    出版 2008
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  3. 3
    Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2

    Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2 由 Carolin Friemel, Ole Ammerpohl, Jana Gutwein, Andreas Schmutzler, Almuth Caliebe, Monika Kautza, Sören von Otte, Reiner Siebert, Susanne Bens

    出版 2014
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  4. 4
    Formin-mediated nuclear actin at androgen receptors promotes transcription

    Formin-mediated nuclear actin at androgen receptors promotes transcription 由 Julian Knerr, Ralf Werner, Carsten Schwan, Hong Wang, Peter Gebhardt, Helga Grötsch, Almuth Caliebe, Malte Spielmann, Paul‐Martin Holterhus, Robert Grosse, Nadine Hornig

    出版 2023
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  5. 5
    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders 由 Rebecca Poole, Louise E Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma L. Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah Mackay

    出版 2013
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  6. 6
    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome

    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome 由 Gökhan Yigit, Karen E. Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoğlu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian T. Thiel, Bernd Wollnik

    出版 2015
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  7. 7
    Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy

    Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy 由 Inga Nagel, Marius Bartels, Johannes Duell, Hans‐Heinrich Oberg, Sandra Ussat, Henrike Bruckmueller, Oliver G. Ottmann, Roman Pfeifer, Heiko Trautmann, Nicola Gökbuget, Almuth Caliebe, Dieter Kabelitz, Michael Kneba, Heinz‐August Horst, Dieter Hoelzer, Max S. Topp, Ingolf Cascorbi, Reiner Siebert, Monika Brüggemann

    出版 2017
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  8. 8
    Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

    Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency 由 Sebastian Fuchs, Anne Rensing‐Ehl, Carsten Speckmann, Bertram Bengsch, Annette Schmitt‐Graeff, Ilka Bondzio, Andrea Maul‐Pavicic, Thilo Bass, Thomas Vraetz, Brigitte Strahm, Tobias Ankermann, Melina Benson, Almuth Caliebe, Regina Fölster‐Holst, Petra Kaiser, Robert Thimme, Wolfgang W. Schamel, Klaus Schwarz, Stefan Feske, Stephan Ehl

    出版 2011
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  9. 9
    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome 由 Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier‐Daire, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer‐Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Céline Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter Krawitz, Peter Nürnberg, Reiner Siebert, H Manzke, Stefan Mundlos

    出版 2014
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  10. 10
    A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

    A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development 由 Elisa De Franco, Rachel A. Watson, Wolfgang J. Weninger, Chi Chun Wong, Sarah E. Flanagan, Richard Caswell, Angela Green, Catherine Tudor, Christopher J. Lelliott, Stefan H. Geyer, Barbara Maurer‐Gesek, Lukas F. Reissig, Hana Lango Allen, Almuth Caliebe, Reiner Siebert, Paul Martin Holterhus, Asma Deeb, Fabrice Prin, Robert Hilbrands, Harry Heimberg, Sian Ellard, Andrew T. Hattersley, Inês Barroso

    出版 2019
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  11. 11
    Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

    Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy 由 Anne-Karin Arndt, Sebastian Schäfer, Jörg‐Detlef Drenckhahn, M. Khaled Sabeh, Eva Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A. Werdich, Hermann Kalwa, Matthias Heinig, Robert F. Padera, Katharina Wassilew, Julia Bluhm, Christine Harnack, Janine Martitz, Paul J.R. Barton, Matthias Greutmann, Felix Berger, Norbert Hübner, Reiner Siebert, Hans‐Heiner Kramer, Stuart A. Cook, Calum A. MacRae, Sabine Klaassen

    出版 2013
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  12. 12
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly 由 Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    出版 2012
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  13. 13
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants 由 Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    出版 2018
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  14. 14
    Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

    Aberrant phase separation and nucleolar dysfunction in rare genetic diseases 由 Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa Maria Vittoria Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian Hon‐Yin Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc‐Phillip Hitz, Alexander Hoischen, Paul‐Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Sik Yau Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg Detlev Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia‐Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz

    出版 2023
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  15. 15
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling 由 Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik

    出版 2013
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  16. 16
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy 由 Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen

    出版 2016
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  17. 17
    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum 由 Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horváth, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege Marie Schnelle, Siren Berland, Evelien Zonneveld‐Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Schrier Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julián A. Martínez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana Johnson, Katja Venborg Pedersen, Lone Walentin Laulund, Sally Ann Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

    出版 2019
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  18. 18
    Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study

    Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study 由 Birgit Köhler, Eva Kleinemeier, Anke Lux, Olaf Hiort, Annette Grüters, Ute Thyen, İltaç Akkurt, N. Albers, Oliver Bartsch, Daniel Becker, Matthias W. Beckmann, Rolf Beetz, Markus Bettendorf, P. A. Beyer, Gerhard Binder, Thomas M. Boemers, Christian Brack, Almuth Caliebe, H. G. Dietz, J. Dobberphul, H. G. Dörr, F Eckholdt, Rainer Finke, Michael Fisch, C.E. Flück, D. Frohneberg, Imke Gätjen, H. Gitter, Annette Grüters, Rudolf Hampel, BP Hauffa, P Heidemann, Marianne Heinz, M. Hemmighaus, J. Hensen, Uwe Hofmann, Sven Höhne, Paul‐Martin Holterhus, Stuart Hosie, Klaus Kapelari, Beate Karges, Keller, W. Kiess, Antje Körner, Eckhard Korsch, S. Krege, U. Kuhnle-Krahl, D L'Allemand-Jander, C. Leriche, B. Leube, E. Loeser, Christian Lorenz, W. Marg, Hans Mau, Klaus Mohnike, Michel Morlot, P E Mullis, C. J. Partsch, Roland Pfäffle, Michael B. Ranke, Angela Rauch, Michael Riccabona, Annette Richter-Unruh, Felix G. Riepe, Tilman Rohrer, M. Roll, Wolfgang Rösch, S. Roth, Kirsten Salzgeber, Dominik Schmidt, G. Schott, P. Schröter, H. P. Schwarz, Dietrich von Schweinitz, S. Siemer, G. Simic-Schleicher, Gernot H.G. Sinnecker, W.G. Sippell, Michael Sohn, Raimund Stein, S. Tinschert, S. Uhlarik, K.-L. Waag, Martin Wabitsch, Franz Waldhauser, D. Wallwiener, L. Wessel, M. Westenfelder, Peter Wieacker, R. P. Willig, Jürgen Wintgens, Stefan A. Wudy, Lutz Wünsch, Achim Wüsthof, Uta Zeeh, G. Zöller, Silvano Bertelloni, Peggy T. Cohen–Kettenis, Ieuan A. Hughes, C Nihoul-Fékète

    出版 2011
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  19. 19
    Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer 由 Manuel A. R. Ferreira, Eric R. Gamazon, Fares Al‐Ejeh, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton‐Culver, Aðalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmañà, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Åke Borg, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Trinidad Caldés, Maria A. Caligo, Daniele Campa, Ian Campbell, Federico Canzian, Jonathan Carter, Brian D. Carter, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Hans Christiansen, Wendy K. Chung, Kathleen Claes, Christine L. Clarke, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan C. Donaldson, Jacqueline Eason, Ros Eeles, D. Gareth Evans, Helen Gregory, Helen Hanson, Alex Henderson, Shirley Hodgson, Louise Izatt, Michael J. Kennedy, Fiona Lalloo, Clare Miller, Patrick J. Morrison, Kai‐Ren Ong, Jo Perkins, Mary Porteous, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Patricia A. Harrington, Norbert Arnold, Bernd Auber, Nadja Bogdanova-Markov, Julika Borde, Almuth Caliebe, Nina Ditsch, Bernd Dworniczak, Stefanie Engert, Ulrike Faust, Andrea Gehrig, Eric Hahnen, Jan Hauke, Julia Hentschel, Wei He, Ellen Honisch, Walter Just, Karin Kast, Mirjam Larsen, Johannes Lemke, Huu Phuc Nguyen, Dieter Niederacher, Claus‐Eric Ott, Konrad Platzer, Esther Pohl‐Rescigno, Juliane Ramser, Kerstin Rhiem, Doris Steinemann, Christian Sutter, Raymonda Varon-Mateeva

    出版 2019
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  20. 20
    Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

    Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification 由 Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lídia Feliubadaló, Cora M. Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso‐Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmañà, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Gabriele Lorenzo Capone, Sandrine M. Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux‐Moncoutier, Pietro Cavalli, Giulia Cini, Edward Clarke, Paola Concolino, Elisa J. Cops, Laura Cortesi, Fergus J. Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Dı́ez, Nina Ditsch, Susan M. Domchek, Véronique Dutrannoy, Diana Eccles, Hans Ehrencrona, Ute Enders, D. Gareth Evans, Chantal Farra, Ulrike Faust, Ute Felbor, Irène Feroce, Miriam Fine, William D. Foulkes, Henrique C.R. Galvão, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne‐Marie Gerdes, Aldo Germani, J Giesecke, Viviana Gismondi, Carolina Gómez, E. Gómez, Sara González, Èlia Grau, Sabine Grill, Eva Groß, Aliana Guerrieri‐Gonzaga, Marine Guillaud‐Bataille, Sara Gutiérrez‐Enríquez, Thomas Haaf, Karl Hackmann, Thomas van Overeem Hansen, Marion Harris, Jan Hauke, T. Heinrich, Heide Hellebrand, Karen Herold, Ellen Honisch, Judit Horváth, Claude Houdayer, Verena Hübbel, Sílvia Iglesias, À. Izquierdo, Paul A. James, Linda A.M. Janssen, Udo Jeschke, Silke Kaulfuß

    出版 2019
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