Hakutulokset - Yuki Hitomi

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  1. 1
    The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update

    The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update Tekijä Yuki Hitomi, Minoru Nakamura

    Julkaistu 2023
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  2. 2
    Construction of an integrated database for hERG blocking small molecules

    Construction of an integrated database for hERG blocking small molecules Tekijä Sato, Tomohiro, Yuki, Hitomi, Ogura, Keiji, Honma, Teruki

    Julkaistu 2018
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  3. 3
    Support Vector Machine model for hERG inhibitory activities based on the integrated hERG database using descriptor selection by NSGA-II

    Support Vector Machine model for hERG inhibitory activities based on the integrated hERG database using descriptor selection by NSGA-II Tekijä Ogura, Keiji, Sato, Tomohiro, Yuki, Hitomi, Honma, Teruki

    Julkaistu 2019
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  4. 4
    Identification of region-specific gene isoforms in the human brain using long-read transcriptome sequencing

    Identification of region-specific gene isoforms in the human brain using long-read transcriptome sequencing Tekijä Mihoko Shimada, Yosuke Omae, Akiyoshi Kakita, Ramil Gabdulkhaev, Yuki Hitomi, Taku Miyagawa, Makoto Honda, Akihiro Fujimoto, Katsushi Tokunaga

    Julkaistu 2024
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  5. 5
    Clinical application of exome sequencing in undiagnosed genetic conditions

    Clinical application of exome sequencing in undiagnosed genetic conditions Tekijä Anna C. Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V. Shianna, Marie McDonald, Miriam H. Meisler, David B. Goldstein

    Julkaistu 2012
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  6. 6
    Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function

    Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function Tekijä Yuki Hitomi, Elizabeth T. Cirulli, Jacques Fellay, John G. McHutchison, Alexander Thompson, Curtis Gumbs, Kevin V. Shianna, Thomas Urban, David B. Goldstein

    Julkaistu 2011
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  7. 7
    Flexibility of the P-loop of Pim-1 kinase: observation of a novel conformation induced by interaction with an inhibitor

    Flexibility of the P-loop of Pim-1 kinase: observation of a novel conformation induced by interaction with an inhibitor Tekijä Parker, Lorien J., Watanabe, Hisami, Tsuganezawa, Keiko, Tomabechi, Yuri, Handa, Noriko, Shirouzu, Mikako, Yuki, Hitomi, Honma, Teruki, Ogawa, Naoko, Nagano, Tetsuo, Yokoyama, Shigeyuki, Tanaka, Akiko

    Julkaistu 2012
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  8. 8
    The ubiquinone synthesis pathway is a promising drug target for Chagas disease

    The ubiquinone synthesis pathway is a promising drug target for Chagas disease Tekijä Nara, Takeshi, Nakagawa, Yukari, Tsuganezawa, Keiko, Yuki, Hitomi, Sekimata, Katsuhiko, Koyama, Hiroo, Ogawa, Naoko, Honma, Teruki, Shirouzu, Mikako, Fukami, Takehiro, Matsuo, Yuichi, Inaoka, Daniel Ken, Kita, Kiyoshi, Tanaka, Akiko

    Julkaistu 2021
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  9. 9
    Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma

    Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma Tekijä Yuki Hitomi, Motohiro Ebisawa, Morimitsu Tomikawa, Takanori Imai, Takatsugu Komata, Tomomitsu Hirota, Michishige Harada, Masafumi Sakashita, Yoichi Suzuki, Naoki Shimojo, Yoichi Kohno, Kimie Fujita, Akihiko Miyatake, Satoru Doi, Tadao Enomoto, Masami Taniguchi, Noritaka Higashi, Yusuke Nakamura, Mayumi Tamari

    Julkaistu 2009
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  10. 10
    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis Tekijä Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik‐Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben‐Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet

    Julkaistu 2012
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  11. 11
    Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population

    Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population Tekijä Xiaoyuan Jia, Tomoko Horinouchi, Yuki Hitomi, Akemi Shono, Seik‐Soon Khor, Yosuke Omae, Kaname Kojima, Yosuke Kawai, Masao Nagasaki, Yoshitsugu Kaku, Takayuki Okamoto, Yoko Ohwada, Kazuhide Ohta, Yusuke Okuda, Rika Fujimaru, Ken Hatae, Naonori Kumagai, Emi Sawanobori, Hitoshi Nakazato, Yasufumi Ohtsuka, Koichi Nakanishi, Yuko Shima, Ryojiro Tanaka, Akira Ashida, Koichi Kamei, Kenji Ishikura, Kandai Nozu, Katsushi Tokunaga, Kazumoto Iijima

    Julkaistu 2018
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  12. 12
    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios Tekijä Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, K. Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek‐Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong‐hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

    Julkaistu 2015
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  13. 13
    Thymic Stromal Lymphopoietin Gene Promoter Polymorphisms Are Associated with Susceptibility to Bronchial Asthma

    Thymic Stromal Lymphopoietin Gene Promoter Polymorphisms Are Associated with Susceptibility to Bronchial Asthma Tekijä Michishige Harada, Tomomitsu Hirota, Aya Jodo, Yuki Hitomi, Masafumi Sakashita, Tatsuhiko Tsunoda, Takehiko Miyagawa, Satoru Doi, Makoto Kameda, Kimie Fujita, Akihiko Miyatake, Tadao Enomoto, Emiko Noguchi, Hironori Masuko, Tohru Sakamoto, Nobuyuki Hizawa, Yoichi Suzuki, Shigemi Yoshihara, Mitsuru Adachi, Motohiro Ebisawa, Hirohisa Saito, Kenji Matsumoto, Toshiharu Nakajima, Rasika A. Mathias, Nicholas Rafaels, Kathleen C. Barnes, Blanca E. Himes, Qing Duan, Kelan G. Tantisira, Scott T. Weiss, Yusuke Nakamura, Steven F. Ziegler, Mayumi Tamari

    Julkaistu 2010
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  14. 14
    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Tekijä Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

    Julkaistu 2013
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  15. 15
    Genome-wide association studies identify<i>PRKCB</i>as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

    Genome-wide association studies identify<i>PRKCB</i>as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population Tekijä Minae Kawashima, Yuki Hitomi, Yoshihiro Aiba, Nao Nishida, Kaname Kojima, Yosuke Kawai, Hitomi Nakamura, Atsushi Tanaka, Mikio Zeniya, Etsuko Hashimoto, Hiromasa Ohira, Kazuhide Yamamoto, Masanori Abe, Kazuhiko Nakao, Satoshi Yamagiwa, Shuichi Kaneko, Masao Honda, Takeji Umemura, Takafumi Ichida, Masataka Seike, Shotaro Sakisaka, Masaru Harada, Osamu Yokosuka, Yoshiyuki Ueno, Michio Senju, Tatsuo Kanda, Hidetaka Shibata, Takashi Himoto, Kazumoto Murata, Yasuhiro Miyake, Hirotoshi Ebinuma, Makiko Taniai, Satoru Joshita, Toshiki Nikami, Hajime Ota, Hiroshi Kouno, Hirotaka Kouno, Makoto Nakamuta, Nobuyoshi Fukushima, Motoyuki Kohjima, Tatsuji Komatsu, Toshiki Komeda, Yukio Ohara, Toyokichi Muro, Tsutomu Yamashita, Kaname Yoshizawa, Yoko Nakamura, Masaaki Shimada, Noboru Hirashima, Kazuhiro Sugi, Keisuke Ario, Eiichi Takesaki, Atsushi Naganuma, Hiroshi Mano, Haruhiro Yamashita, Kouki Matsushita, Kazuhiko Yamauchi, Fujio Makita, Hideo Nishimura, Kiyoshi Furuta, Naohiro Takahashi, Masahiro Kikuchi, Naohiko Masaki, Tomohiro Tanaka, Sumito Tamura, Akira Mori, Shintaro Yagi, Ken Shirabe, Atsumasa Komori, Kiyoshi Migita, Masahiro Ito, Shinya Nagaoka, Seigo Abiru, Hiroshi Yatsuhashi, Michio Yasunami, Shinji Shimoda, Kenichi Harada, Hiroto Egawa, Yoshihiko Maehara, Shinji Üemoto, Norihiro Kokudo, Hajime Takikawa, Hiromi Ishibashi, Kazuaki Chayama, Masashi Mizokami, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura

    Julkaistu 2016
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  16. 16
    De novo mutations in epileptic encephalopathies

    De novo mutations in epileptic encephalopathies Tekijä Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy A. Glauser, David B. Goldstein, Yujun Han, Erin L. Heinzen, Yuki Hitomi, Katherine B. Howell, Michael Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Yi Lü, Maura R.Z. Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott H. Sherr, Christopher J. Yuskaitis, Bassel Abou‐Khalil, Brian K. Alldredge, Jocelyn F. Bautista, Alex Boro, Gregory D. Cascino, D. Consalvo, Patricia K. Crumrine, Orrin Devinsky, Miquel Fiol, Nathan B. Fountain, Jacqueline A. French, Daniel Friedman, Eric B. Geller, Simon Glynn, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta M. Joshi, Andrés M. Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Shannon M. McGuire, Paul Motika, Edward J. Novotny, Juliann Paolicchi, Jack M. Parent, Kristen Park, Renée A. Shellhaas, Jerry J. Shih, Rani K. Singh, Joseph Sirven, Michael C. Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith Weisenberg, Peter Widdess‐Walsh, Melodie R. Winawer

    Julkaistu 2013
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  17. 17
    Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

    Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome Tekijä Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, Michelle Mcnulty, Kyuyong Song, China Nagano, Yuki Hitomi, Dongwon Lee, Yoshihiro Aiba, Seik‐Soon Khor, Kazuko Ueno, Yosuke Kawai, Masao Nagasaki, Eisei Noiri, Tomoko Horinouchi, Hiroshi Kaito, Riku Hamada, Takayuki Okamoto, Koichi Kamei, Yoshitsugu Kaku, Rika Fujimaru, Ryojiro Tanaka, Yuko Shima, Jiwon Baek, Hee Gyung Kang, Il Soo Ha, Kyoung Hee Han, Eun Mi Yang, Asiri Abeyagunawardena, Brandon M. Lane, Megan Chryst-Stangl, Christopher Imokhuede Esezobor, Adaobi Solarin, Claire Dossier, Georges Deschênes, Marina Vivarelli, Hanna Dębiec, Kenji Ishikura, Masafumi Matsuo, Kandai Nozu, Pierre Ronco, Hae Il Cheong, Matthew G. Sampson, Katsushi Tokunaga, Kazumoto Iijima, Yoshinori Araki, Yoshinobu Nagaoka, Takayuki Okamoto, Yasuyuki Sato, Asako Hayashi, Toshiyuki Takahashi, Hayato Aoyagi, Michihiko Ueno, Masanori Nakanishi, Nariaki Toita, Kimiaki Uetake, Norio Kobayashi, Shoji Fujita, Kazushi Tsuruga, Naonori Kumagai, Hiroki Kudo, Eriko Tanaka, Tae Omori, Mari Okada, Yoshiho Hatai, Tomohiro Udagawa, Yaeko Motoyoshi, Kenji Ishikura, Koichi Kamei, Masao Ogura, Mai Sato, Yuji Kano, Motoshi Hattori, Kenichiro Miura, Yutaka Harita, Shoichiro Kanda, Emi Sawanobori, Anna Kobayashi, Manabu Kojika, Yoko Ohwada, Kunimasa Yan, Hiroshi Hataya, Riku Hamada, Chikako Terano, Ryoko Harada, Yuko Hamasaki, Junya Hashimoto, Shuichi Ito, Hiroyuki Machida, Aya Inaba, Takeshi Matsuyama, Miwa Goto, Masaki Shimizu, Kazuhide Ohta, Yohei Ikezumi, Takeshi Yamada, Toshiaki Suzuki, Soichi Tamamura, Yukiko Mori, Yoshihiko Hidaka

    Julkaistu 2020
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  18. 18
    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Tekijä Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, Francesco Danilo Tiziano, Bertrand Fontaine, Sophie Nicole, Sinéad B. Heavin, Eleni Panagiotakaki, Sophie Nicole, Fiorella Gurrieri, Giovanni Neri, Boukje de Vries, Stephany C Koelewijn, Jessica T. Kamphorst, Marije A. Geilenkirchen, Nadine Pelzer, Laura Laan, Joost Haan, Michel D. Ferrari, Arn van den Maagdenberg, Claudio Zucca, Maria Teresa Bassi, F Franchini, Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Elisa De Grandis, E. Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Soňa Nevšímalová, Laura Laan, Cacha Peeters‐Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis P. Crawley, Dominique Poncelin, Rosaria Vavassori, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew Sweney, Tara Newcomb, Louis Viollet, Chad D. Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptáček, Joost Haan, Michel D. Ferrari, Ann Bye, Geoffrey Herkes, Charlotte M Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M. J. M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein

    Julkaistu 2012
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  19. 19
    X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

    X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis Tekijä Rosanna Asselta, Elvezia Maria Paraboschi, Alessio Gerussi, Heather J. Cordell, George Mells, Richard Sandford, David Jones, Minoru Nakamura, Kazuko Ueno, Yuki Hitomi, Minae Kawashima, Nao Nishida, Katsushi Tokunaga, Masao Nagasaki, Atsushi Tanaka, Ruqi Tang, Zhiqiang Li, Yongyong Shi, Xiangdong Liu, Ma Xiong, Gideon M. Hirschfield, Katherine A. Siminovitch, Marco Carbone, Giulia Cardamone, Stefano Duga, M. Eric Gershwin, Michael F. Seldin, Pietro Invernizzi, Erin J. Walker, Gang Xie, Andy Mason, Robert P. Myers, Kevork Peltekian, Cameron N. Ghent, Elizabeth J. Atkinson, Bruce Juran, Kostas Lazaridis, Yue Lu, Xiangjun Gu, Kaiyan Jing, Chris Amos, Andrea Affronti, Maurizia Rossana Brunetto, B. Coco, Giancarlo Spinzi, G. Elia, Carlo Ferrari, Ana Lleó, Luigi Muratori, Paolo Muratori, Piero Portincasa, Agostino Colli, Savino Bruno, Guido Colloredo, Francesco Azzaroli, Pietro Andreoné, Maria Consiglia Bragazzi, Domenico Alvaro, Vincenzo Cardinale, Nora Cazzagon, Cristina Rigamonti, Annarosa Floreani, F. Rosina, Antonio Ciaccio, Laura Cristoferi, Daphne D’Amato, Federica Malinverno, Clara Mancuso, Sara Massironi, Chiara Milani, Sarah Elisabeth O’Donnell, Vincenzo Ronca, Donatella Barisani, Pietro Lampertico, Francesco Donato, S. Fagiuoli, Piero Luigi Almasio, Edoardo G. Giannini, Carmela Cursaro, Massimo Colombo, Luca Valenti, Luca Miele, Angelo Andriulli, Grazia Anna Niro, Ignazio Grattagliano, Lorenzo Morini, Giovanni Casella, M. Vinci, Pier Maria Battezzati, Andrea Crosignani, Massimo Zuin, Alberto Mattalia, Vincenza Calvaruso, Sílvia Colombo, A. Benedetti, Marco Marzioni, Andrea Galli, Fabio Marra, Mirko Tarocchi, A. Picciotto

    Julkaistu 2021
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  20. 20
    An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

    An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs Tekijä Heather J. Cordell, James J. Fryett, Kazuko Ueno, Rebecca Darlay, Yoshihiro Aiba, Yuki Hitomi, Minae Kawashima, Nao Nishida, Seik‐Soon Khor, Olivier Gervais, Yosuke Kawai, Masao Nagasaki, Katsushi Tokunaga, Ruqi Tang, Yongyong Shi, Zhiqiang Li, Brian D. Juran, Elizabeth J. Atkinson, Alessio Gerussi, Marco Carbone, Rosanna Asselta, Angela Cheung, Mariza de Andrade, Aris Baras, Julie Horowitz, Manuel A. R. Ferreira, Dylan Sun, David Jones, Steven Flack, Ann Spicer, Victoria Mulcahy, Jinyoung Byan, Younghun Han, Richard Sandford, Konstantinos N. Lazaridis, Christopher I. Amos, Gideon M. Hirschfield, Michael F. Seldin, Pietro Invernizzi, Katherine A. Siminovitch, Xiong Ma, Minoru Nakamura, George Mells, Katherine A. Siminovitch, Gideon M. Hirschfield, Andrew L. Mason, Catherine Vincent, Gang Xie, Jinyi Zhang, Ruqi Tang, Xiong Ma, Zhiqiang Li, Yongyong Shi, Andrea Affronti, Piero Luigi Almasio, Domenico Alvaro, Pietro Andreoné, Angelo Andriulli, Francesco Azzaroli, Pier Maria Battezzati, A. Benedetti, Maria Consiglia Bragazzi, Maurizia Rossana Brunetto, Raffaele Bruno, Vincenza Calvaruso, Vincenzo Cardinale, Giovanni Casella, Nora Cazzagon, Antonio Ciaccio, B. Coco, Agostino Colli, Guido Colloredo, Massimo Colombo, Sílvia Colombo, Laura Cristoferi, Carmela Cursaro, Lory Saveria Crocè, Andrea Crosignani, Daphne D’Amato, Francesco Donato, G. Elia, Luca Fabris, S. Fagiuoli, Carlo Ferrari, Annarosa Floreani, Andrea Galli, Edoardo G. Giannini, Ignazio Grattagliano, Pietro Lampertico, Ana Lleó, Federica Malinverno, Clara Mancuso, Fabio Marra, Marco Marzioni, Sara Massironi, Alberto Mattalia, Luca Miele, Chiara Milani, Lorenzo Morini, Filomena Morisco

    Julkaistu 2021
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