نتائج البحث - Sander Pajusalu

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  1. 1
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia حسب Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

    منشور في 2018
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  2. 2
    A missense mutation in the catalytic domain of <i>O</i>‐GlcNAc transferase links perturbations in protein <i>O</i>‐GlcNAcylation to X‐linked intellectual disability

    A missense mutation in the catalytic domain of <i>O</i>‐GlcNAc transferase links perturbations in protein <i>O</i>‐GlcNAcylation to X‐linked intellectual disability حسب Veronica M. Pravatà, Mehmet Gundogdu, Sergio G. Bartual, Andrew T. Ferenbach, Marios P. Stavridis, Katrin Õunap, Sander Pajusalu, Riina Žordania, Monica H. Wojcik, Daan M. F. van Aalten

    منشور في 2019
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  3. 3
    Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

    Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases حسب Wei Liu, Sander Pajusalu, Nicole J. Lake, Geyu Zhou, Nilah M. Ioannidis, Plavi Mittal, Nicholas E. Johnson, Conrad C. Weihl, Bradley A. Williams, Douglas E. Albrecht, Laura Rufibach, Monkol Lek

    منشور في 2019
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  4. 4
    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis حسب Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu, Christopher Chun Yu Mak, Vivian Chin Chin Hui, Mandy Ho Yin Tsang, Kit San Yeung, Monkol Lek, Brian Hon‐Yin Chung

    منشور في 2020
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  5. 5
    Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration

    Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration حسب Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    منشور في 2023
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  6. 6
    Human skeletal myopathy myosin mutations disrupt myosin head sequestration

    Human skeletal myopathy myosin mutations disrupt myosin head sequestration حسب Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    منشور في 2023
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  7. 7
    Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

    Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores حسب Peeter Padrik, Neeme Tönisson, Tone Hovda, Kristine Kleivi Sahlberg, Eivind Hovig, Luís Costa, G. Nogueira-Costa, Inna Feldman, Filipa Sampaio, Sander Pajusalu, Kristiina Ojamaa, Kersti Kallak, Ave-Triin Tihamäe, Laura Roht, Tiina Kahre, Anni Lepland, Siim Sõber, Krista Kruuv-Käo, Madli Tamm, Jajini S. Varghese, D. Gareth Evans

    منشور في 2025
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  8. 8
    Diffuse hypomyelination is not obligate for POLR3-related disorders

    Diffuse hypomyelination is not obligate for POLR3-related disorders حسب Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee Tien Poll‐The, Chirag Patel, Helen Cox, Tahir Atık, Hüseyin Önay, Ferda Özkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

    منشور في 2016
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  9. 9
    Unexpected Death of a Duchenne Muscular Dystrophy Patient in an N-of-1 Trial of rAAV9-delivered CRISPR-transactivator

    Unexpected Death of a Duchenne Muscular Dystrophy Patient in an N-of-1 Trial of rAAV9-delivered CRISPR-transactivator حسب Angela Lek, Brenda Wong, Allison M. Keeler, Meghan Blackwood, Kaiyue Ma, Shushu Huang, Katelyn Sylvia, Ana Rita Batista, Rebecca Artinian, Danielle Kokoski, Shestruma Parajuli, Juan Putra, Chrystalle Katte Carreon, Hart G.W. Lidov, Keryn G. Woodman, Sander Pajusalu, Janelle M. Spinazzola, T. F. Gallagher, Joan M. LaRovere, Diane Baulderson, Lauren Page Black, Keith A. Sutton, Richard Horgan, Monkol Lek, Terence R. Flotte

    منشور في 2023
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  10. 10
    Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy

    Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy حسب Angela Lek, Brenda Wong, Allison M. Keeler, Meghan Blackwood, Kaiyue Ma, Shushu Huang, Katelyn Sylvia, Ana Rita Batista, Rebecca Artinian, Danielle Kokoski, Shestruma Parajuli, Juan Putra, Chrystalle Katte Carreon, Hart G.W. Lidov, Keryn G. Woodman, Sander Pajusalu, Janelle M. Spinazzola, T. F. Gallagher, Joan M. LaRovere, Diane Balderson, Lauren Page Black, Keith A. Sutton, Richard Horgan, Monkol Lek, Terence R. Flotte

    منشور في 2023
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  11. 11
    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases حسب Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar J. Hernández, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, André Franke, Braden Boone, Shawn Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul R. Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore

    منشور في 2021
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  12. 12
    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation حسب David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F. Macnamara, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, Achim Werner

    منشور في 2021
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  13. 13
    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency حسب David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

    منشور في 2020
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  14. 14
    POLRMT mutations impair mitochondrial transcription causing neurological disease

    POLRMT mutations impair mitochondrial transcription causing neurological disease حسب Monika Oláhová, Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans‐Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

    منشور في 2021
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  15. 15
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia حسب Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    منشور في 2018
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  16. 16
    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 حسب 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

    منشور في 2019
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  17. 17
    Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

    Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging حسب Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, C Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, M. E. Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa Wasserstein, Brian G. Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, Johannes L. Roos, Koen L.I. van Gassen, Marion Koopmans, Emilia K. Bijlsma, Gijs W.E. Santen, Daniela Q.C.M. Barge‐Schaapveld, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Seema R. Lalani, Haley Streff, William J. Craigen, Brett H. Graham, Annette P.M. van den Elzen, D.J. Kamphuis, Katrin Õunap, Karit Reinson, Sander Pajusalu, Monica H. Wojcik, Clara Viberti, Cornelia Di Gaetano, Enrico Bertini, Simona Petrucci, Alessandro De Luca, Rossella Rota, Elisabetta Ferretti, Giuseppe Matullo, Bruno Dallapiccola, Antonella Sgura, Magdalena Walkiewicz, R. Frank Kooy, Marco Tartaglia

    منشور في 2019
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  18. 18
    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease حسب Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria

    منشور في 2024
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  19. 19
    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome حسب David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes

    منشور في 2020
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  20. 20
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study حسب Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    منشور في 2020
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