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1تقرير
المؤلفون: Wu, Da, Yang, Jingye, Liu, Cong, Hsieh, Tzung-Chien, Marchi, Elaine, Blair, Justin, Krawitz, Peter, Weng, Chunhua, Chung, Wendy, Lyon, Gholson J., Krantz, Ian D., Kalish, Jennifer M., Wang, Kai
مصطلحات موضوعية: Quantitative Biology - Quantitative Methods, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Computer Science - Multimedia, Quantitative Biology - Genomics
الوصول الحر: http://arxiv.org/abs/2312.15320Test
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2تقرير
المؤلفون: Hellmann, Fabio, Mertes, Silvan, Benouis, Mohamed, Hustinx, Alexander, Hsieh, Tzung-Chien, Conati, Cristina, Krawitz, Peter, André, Elisabeth
مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Multimedia
الوصول الحر: http://arxiv.org/abs/2305.02143Test
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3تقرير
المؤلفون: Hustinx, Alexander, Hellmann, Fabio, Sümer, Ömer, Javanmardi, Behnam, André, Elisabeth, Krawitz, Peter, Hsieh, Tzung-Chien
المصدر: 2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV)
مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence, Quantitative Biology - Genomics
الوصول الحر: http://arxiv.org/abs/2211.06764Test
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4تقرير
المؤلفون: Sümer, Ömer, Hellmann, Fabio, Hustinx, Alexander, Hsieh, Tzung-Chien, André, Elisabeth, Krawitz, Peter
مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Multimedia
الوصول الحر: http://arxiv.org/abs/2210.12705Test
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5دورية أكاديمية
المؤلفون: Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, Olinger, Eric
المصدر: Hsieh , T-C , Lesmann , H , Hustinx , A , Moosa , S , Marchi , E , Martin , M D P C , Abdelrazek , I , Pantel , J T , Klinkhammer , H , Hagen , M T , Thong , M-K , Mazlan , R A B , Tae , S K , Kamphans , T , Meiswinkel , W , Javanmardi , B , Knaus , A , Uwineza , A , Knopp , C , Tkemaladze , T , Elbracht , M , Mattern , L , Jamra , R ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdfTest -
6دورية أكاديمية
المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon
المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1172/JCI171235Test
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest
https://pure.eur.nl/ws/files/126117603/Spliceosome_malfunction_causes_neurodevelopmental_disorders_with_overlapping_features.pdfTest
http://www.scopus.com/inward/record.url?scp=85181539861&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Duong, Dat, Johny, Anna Rose, Ledgister Hanchard, Suzanna, Fortney, Christopher, Flaharty, Kendall, Hellmann, Fabio, Hu, Ping, Javanmardi, Behnam, Moosa, Shahida, Patel, Tanviben, Persky, Susan, Sümer, Ömer, Tekendo-Ngongang, Cedrik, Lesmann, Hellen, Hsieh, Tzung-Chien, Waikel, Rebekah L., André, Elisabeth, Krawitz, Peter, Solomon, Benjamin D.
مصطلحات موضوعية: ddc:004
وصف الملف: application/pdf
العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/112513Test; urn:nbn:de:bvb:384-opus4-1125138; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1125138Test; https://doi.org/10.1371/journal.pgen.1011168Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/112513/journal.pgen.1011168.pdfTest
الإتاحة: https://doi.org/10.1371/journal.pgen.1011168Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/112513Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1125138Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/112513/journal.pgen.1011168.pdfTest -
8دورية أكاديميةZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
المؤلفون: Laugwitz, Lucia, Cheng, Fubo, Collins, Stephan C, Hustinx, Alexander, Navarro, Nicolas, Welsch, Simon, Cox, Helen, Hsieh, Tzung-Chien, Vijayananth, Aswinkumar, Buchert, Rebecca, Bender, Benjamin, Efthymiou, Stephanie, Murphy, David, Zafar, Faisal, Rana, Nuzhat, Grasshoff, Ute, Falb, Ruth J, Grimmel, Mona, Seibt, Annette, Zheng, Wenxu, Ghaedi, Hamid, Thirion, Marie, Couette, Sébastien, Azizimalamiri, Reza, Sadeghian, Saeid, Galehdari, Hamid, Zamani, Mina, Zeighami, Jawaher, Sedaghat, Alireza, Ramshe, Samira Molaei, Zare, Ali, Alipoor, Behnam, Klee, Dirk, Sturm, Marc, Ossowski, Stephan, Houlden, Henry, Riess, Olaf, Wieczorek, Dagmar, Gavin, Ryan, Maroofian, Reza, Krawitz, Peter, Yalcin, Binnaz, Distelmaier, Felix, Haack, Tobias B
المصدر: Brain , Article awae058. (2024) (In press).
مصطلحات موضوعية: neurodevelopmental disorders, zinc finger transcription factor, oto-facial syndrome, semicircular canal dysplasia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188108/7/Maroofian_awae058.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188108Test/
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9دورية أكاديمية
المؤلفون: Averdunk, Luisa, Huetzen, Maxim A, Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A, Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L, Antonin, Wolfram, Jachimowicz, Ron D, von Felbert, Verena, Distelmaier, Felix
المصدر: Genetics in Medicine, 25 (7), 100836 (2023-07)
مصطلحات موضوعية: Aging, DNA damage and repair, Mitotic errors, Rothmund-Thomson syndrome, Senescence, Hydroxyurea, CRIPT protein, human, Adaptor Proteins, Signal Transducing, Humans, Cellular Senescence/genetics, DNA Damage, Hydroxyurea/metabolism, Fibroblasts, Mutation, Adaptor Proteins, Signal Transducing/metabolism, Rothmund-Thomson Syndrome/genetics, Rothmund-Thomson Syndrome/diagnosis, Rothmund-Thomson Syndrome/pathology, Cellular Senescence, Genetics (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
العلاقة: https://api.elsevier.com/content/article/PII:S1098360023008493?httpAccept=text/xmlTest; urn:issn:1098-3600; urn:issn:1530-0366
الوصول الحر: https://orbi.uliege.be/handle/2268/305423Test
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10دورية أكاديمية
المؤلفون: Ebstein, Frédéric, Küry, Sébastien, Most, Victoria, Rosenfelt, Cory, Scott-Boyer, Marie Pier, van Woerden, Geeske M., Besnard, Thomas, Papendorf, Jonas Johannes, Studencka-Turski, Maja, Wang, Tianyun, Hsieh, Tzung Chien, Golnik, Richard, Baldridge, Dustin, Forster, Cara, de Konink, Charlotte, Teurlings, Selina M.W., Vignard, Virginie, van Jaarsveld, Richard H., Ades, Lesley, Cogné, Benjamin, Mignot, Cyril, Deb, Wallid, Jongmans, Marjolijn C.J., Cole, F. Sessions, van den Boogaard, Marie José H., Wambach, Jennifer A., Wegner, Daniel J., Yang, Sandra, Hannig, Vickie, Brault, Jennifer Ann, Zadeh, Neda, Bennetts, Bruce, Keren, Boris, Gélineau, Anne Claire, Powis, Zöe, Towne, Meghan, Bachman, Kristine, Seeley, Andrea, Beck, Anita E., Morrison, Jennifer, Westman, Rachel, Averill, Kelly, Brunet, Theresa, Haasters, Judith, Carter, Melissa T., Osmond, Matthew, Wheeler, Patricia G., Forzano, Francesca, Mohammed, Shehla, Trakadis, Yannis, Accogli, Andrea, Harrison, Rachel, Guo, Yiran, Hakonarson, Hakon, Rondeau, Sophie, Baujat, Geneviève, Barcia, Giulia, Feichtinger, René Günther, Mayr, Johannes Adalbert, Preisel, Martin, Laumonnier, Frédéric, Kallinich, Tilmann, Knaus, Alexej, Isidor, Bertrand, Krawitz, Peter, Völker, Uwe, Hammer, Elke, Droit, Arnaud, Eichler, Evan E., Elgersma, Ype, Hildebrand, Peter W., Bolduc, François, Krüger, Elke, Bézieau, Stéphane
المصدر: Ebstein , F , Küry , S , Most , V , Rosenfelt , C , Scott-Boyer , M P , van Woerden , G M , Besnard , T , Papendorf , J J , Studencka-Turski , M , Wang , T , Hsieh , T C , Golnik , R , Baldridge , D , Forster , C , de Konink , C , Teurlings , S M W , Vignard , V , van Jaarsveld , R H , Ades , L , Cogné , B , Mignot , C , Deb , W , Jongmans ....
الإتاحة: https://doi.org/10.1126/scitranslmed.abo3189Test
https://pure.eur.nl/en/publications/973c347c-0f5a-4991-9d1b-ee61f400caebTest
http://www.scopus.com/inward/record.url?scp=85160799341&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/pdf/nihms-1919500.pdfTest
