학술논문
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'학술논문'
에서 검색결과 287건 | 목록
1~20
Academic Journal
Nil, Zelha; Deshwar, Ashish R; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J; Sisco, Kathleen; Shinawi, Marwan; Undiagnosed Disease Network; Wangler, Michael F; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J
Undiagnosed Disease Network, Nil, Z, Deshwar, A R, Barish, S, Zhang, X, Choufani, S, Le Quesne Stabej, P, Hayes, I, Yap, P, Haldeman-Englert, C, Wilson, C, Prescott , T, Tveten, K, Vøllo, A, Haynes, D, Wheeler, P G, Zon, J, Cytrynbaum, C, Jobling, R, Blyth, M, Banka, S, Afenjar, A, Mignot, C, Robin-Renaldo, F, Keren, B, Kanca, O, Mao, X, Wegner, D J, Sisco, K, Shinawi, M, Wangler, M F, Weksberg, R, Yamamoto, S, Costain, G & Bellen, H J 2023, 'Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies', American Journal of Human Genetics, vol. 110, no. 11, pp. 1919-1937. https://doi.org/10.1016/j.ajhg.2023.09.009
Academic Journal
Egil Riveland; Torstein Valborgland; Anastasia Ushakova; Øyvind Skadberg; Trine Karlsen; Torstein Hole; Asbjørn Støylen; Håvard Dalen; Vibeke Videm; Elias Koppen; Axel Linke; Charles Delagardelle; Emeline M. Van Craenenbroeck; Paul Beckers; Eva Prescott; Martin Halle; Torbjørn Omland; Øyvind Ellingsen; Alf Inge Larsen; the SMARTEX‐HF Study Group
ESC Heart Failure, Vol 11, Iss 2, Pp 1121-1132 (2024)
Academic Journal
Cecilie F. Rustad; Paul Hoff Backe; Chunsheng Jin; Else Merckoll; Kristian Tveten; Marissa Lucy Maciej‐Hulme; Niclas Karlsson; Trine Prescott; Elise Sandås Sand; Berit Woldseth; Katja Benedikte Prestø Elgstøen; Øystein L. Holla
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Academic Journal
Elias Koppen; Torbjørn Omland; Alf Inge Larsen; Trine Karlsen; Axel Linke; Eva Prescott; Martin Halle; Håvard Dalen; Charles Delagardelle; Torstein Hole; Emeline M. vanCraenenbroeck; Paul Beckers; Øyvind Ellingsen; Patrick Feiereisen; Torstein Valborgland; Vibeke Videm; SMARTEX‐HF Study Group
ESC Heart Failure, Vol 8, Iss 3, Pp 2183-2192 (2021)
Academic Journal
Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber; Jaclyn B. Murry; Jeff Abramson; Thorsten Althoff; Siddharth Banka; Gareth Baynam; David Bearden; Ana Beleza-Meireles; Paul J. Benke; Siren Berland; Tatjana Bierhals; Frederic Bilan; Laurence A. Bindoff; Geir Julius Braathen; Øyvind L. Busk; Jirat Chenbhanich; Jonas Denecke; Luis F. Escobar; Caroline Estes; Julie Fleischer; Daniel Groepper; Charlotte A. Haaxma; Maja Hempel; Yolanda Holler-Managan; Gunnar Houge; Adam Jackson; Laura Kellogg; Boris Keren; Catherine Kiraly-Borri; Cornelia Kraus; Christian Kubisch; Gwenael Le Guyader; Ulf W. Ljungblad; Leslie Manace Brenman; Julian A. Martinez-Agosto; Matthew Might; David T. Miller; Kelly Q. Minks; Billur Moghaddam; Caroline Nava; Stanley F. Nelson; John M. Parant; Trine Prescott; Farrah Rajabi; Hanitra Randrianaivo; Simone F. Reiter; Janneke Schuurs-Hoeijmakers; Perry B. Shieh; Anne Slavotinek; Sarah Smithson; Alexander P. A. Stegmann; Kinga Tomczak; Kristian Tveten; Jun Wang; Jordan H. Whitlock; Christiane Zweier; Kirsty McWalter; Jane Juusola; Fabiola Quintero-Rivera; Utz Fischer; Nan Cher Yeo; Hans-Jürgen Kreienkamp; Davor Lessel
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Academic Journal
Martin Halle; Eva Prescott; Emeline M. Van Craenenbroeck; Paul Beckers; Vibeke Videm; Trine Karlsen; Patrick Feiereisen; Ephraim B. Winzer; Norman Mangner; Martin Snoer; Jeffrey W. Christle; Håvard Dalen; Asbjørn Støylen; Katrin Esefeld; Melanie Heitkamp; Bianca Spanier; Axel Linke; Øyvind Ellingsen; Charles Delagardelle
American Heart Journal Plus, Vol 22, Iss , Pp 100202- (2022)
Academic Journal
Diets, Illja J; Prescott, Trine; Champaigne, Neena L; Mancini, Grazia M S; Krossnes, Bård; Frič, Radek; Kocsis, Kristina; Jongmans, Marjolijn C J; Kleefstra, Tjitske
Genetics in Medicine, 21, 3, pp. 572-579
Academic Journal
Munthe-Kaas, Monica C.; Forthun, Rakel B.; Brendehaug, Atle; Eek, Anette K.; Høysæter, Trude; Osnes, Liv T.N.; Prescott, Trine; Spetalen, Signe; Hovland, Randi
Journal of Pediatric Hematology/Oncology. Aug 26, 2020
Academic Journal
Küry, Sébastien ; van Woerden, Geeske M. ; Besnard, Thomas ; Proietti Onori, Martina ; Latypova, Xénia ; Towne, Meghan C. ; Cho, Megan T. ; Prescott, Trine E. ; Ploeg, Melissa A. ; Sanders, Stephan ; Stessman, Holly A.F. ; Pujol, Aurora ; Distel, Ben ; Robak, Laurie A. ; Bernstein, Jonathan A. ; Denommé-Pichon, Anne-Sophie ; Lesca, Gaëtan ; Sellars, Elizabeth A. ; Berg, Jonathan ; Carré, Wilfrid ; Busk, Øyvind Løvold ; van Bon, Bregje W.M. ; Waugh, Jeff L. ; Deardorff, Matthew ; Hoganson, George E. ; Bosanko, Katherine B. ; Johnson, Diana S. ; Dabir, Tabib ; Holla, Øystein Lunde ; Sarkar, Ajoy ; Tveten, Kristian ; de Bellescize, Julitta ; Braathen, Geir J. ; Terhal, Paulien A. ; Grange, Dorothy K. ; van Haeringen, Arie ; Lam, Christina ; Mirzaa, Ghayda ; Burton, Jennifer ; Bhoj, Elizabeth J. ; Douglas, Jessica ; Santani, Avni B. ; Nesbitt, Addie I. ; Helbig, Katherine L. ; Andrews, Marisa V. ; Begtrup, Amber ; Tang, Sha ; van Gassen, Koen L.I. ; Juusola, Jane ; Foss, Kimberly ; Enns, Gregory M. ; Moog, Ute ; Hinderhofer, Katrin ; Paramasivam, Nagarajan ; Lincoln, Sharyn ; Kusako, Brandon H. ; Lindenbaum, Pierre ; Charpentier, Eric ; Nowak, Catherine B. ; Cherot, Elouan ; Simonet, Thomas ; Ruivenkamp, Claudia A.L. ; Hahn, Sihoun ; Brownstein, Catherine A. ; Xia, Fan ; Schmitt, Sébastien ; Deb, Wallid ; Bonneau, Dominique ; Nizon, Mathilde ; Quinquis, Delphine ; Chelly, Jamel ; Rudolf, Gabrielle ; Sanlaville, Damien ; Parent, Philippe ; Gilbert-Dussardier, Brigitte ; Toutain, Annick ; Sutton, Vernon R. ; Thies, Jenny ; Peart-Vissers, Lisenka E.L.M. ; Boisseau, Pierre ; Vincent, Marie ; Grabrucker, Andreas M. ; Dubourg, Christèle ; Tan, Wen-Hann ; Verbeek, Nienke E. ; Granzow, Martin ; Santen, Gijs W.E. ; Shendure, Jay ; Isidor, Bertrand ; Pasquier, Laurent ; Redon, Richard ; Yang, Yaping ; State, Matthew W. ; Kleefstra, Tjitske ; Cogné, Benjamin ; Petrovski, Slavé ; Retterer, Kyle ; Eichler, Evan E. ; Rosenfeld, Jill A. ; Agrawal, Pankaj B. ; Bézieau, Stéphane ; Odent, Sylvie ; Elgersma, Ype ; Mercier, Sandra
In The American Journal of Human Genetics 2 November 2017 101(5):768-788
Academic Journal
Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; Loon, Barbara Van; Verellen-Dumoulin, Christine; Verloes, Alain; Lippe, Charlotte von Der; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Study, Ddd; Low, Karen; Newbury-Ecob, Ruth A
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
Academic Journal
Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu ; Gambin, Tomasz ; Chinn, Ivan K. ; Coban Akdemir, Zeynep H. ; Erichsen, Hans Christian ; Forbes, Lisa R. ; Gu, Shen ; Yuan, Bo ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Rødningen, Olaug Kristin ; Sheng, Ying ; Nicholas, Sarah K. ; Noroski, Lenora M. ; Seeborg, Filiz O. ; Davis, Carla M. ; Canter, Debra L. ; Mace, Emily M. ; Vece, Timothy J. ; Allen, Carl E. ; Abhyankar, Harshal A. ; Boone, Philip M. ; Beck, Christine R. ; Wiszniewski, Wojciech ; Fevang, Børre ; Aukrust, Pål ; Tjønnfjord, Geir E. ; Gedde-Dahl, Tobias ; Hjorth-Hansen, Henrik ; Dybedal, Ingunn ; Nordøy, Ingvild ; Jørgensen, Silje F. ; Abrahamsen, Tore G. ; Øverland, Torstein ; Bechensteen, Anne Grete ; Skogen, Vegard ; Osnes, Liv T.N. ; Kulseth, Mari Ann ; Prescott, Trine E. ; Rustad, Cecilie F. ; Heimdal, Ketil R. ; Belmont, John W. ; Rider, Nicholas L. ; Chinen, Javier ; Cao, Tram N. ; Smith, Eric A. ; Caldirola, Maria Soledad ; Bezrodnik, Liliana ; Lugo Reyes, Saul Oswaldo ; Espinosa Rosales, Francisco J. ; Guerrero-Cursaru, Nina Denisse ; Pedroza, Luis Alberto ; Poli, Cecilia M. ; Franco, Jose L. ; Trujillo Vargas, Claudia M. ; Aldave Becerra, Juan Carlos ; Wright, Nicola ; Issekutz, Thomas B. ; Issekutz, Andrew C. ; Abbott, Jordan ; Caldwell, Jason W. ; Bayer, Diana K. ; Chan, Alice Y. ; Aiuti, Alessandro ; Cancrini, Caterina ; Holmberg, Eva ; West, Christina ; Burstedt, Magnus ; Karaca, Ender ; Yesil, Gözde ; Artac, Hasibe ; Bayram, Yavuz ; Atik, Mehmed Musa ; Eldomery, Mohammad K. ; Ehlayel, Mohammad S. ; Jolles, Stephen ; Flatø, Berit ; Bertuch, Alison A. ; Hanson, I. Celine ; Zhang, Victor W. ; Wong, Lee-Jun ; Hu, Jianhong ; Walkiewicz, Magdalena ; Yang, Yaping ; Eng, Christine M. ; Boerwinkle, Eric ; Gibbs, Richard A. ; Shearer, William T. ; Lyle, Robert ; Orange, Jordan S. ; Lupski, James R.
In The Journal of Allergy and Clinical Immunology January 2017 139(1):232-245
Academic Journal
Prescott, Trine E. ; Kulseth, Mari Ann ; Heimdal, Ketil R. ; Stadheim, Barbro ; Hopp, Einar ; Gambin, Tomasz ; Coban Akdemir, Zeynep H. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Gibbs, Richard A. ; Lupski, James R. ; Stray-Pedersen, Asbjørg
In European Journal of Medical Genetics August 2016 59(8):367-372
Academic Journal
Gauquelin, Laurence; Cayami, Ferdy K.; Sztriha, László; Yoon, Grace; Tran, Luan T.; Guerrero, Kether; Hocke, François; van Spaendonk, Rosalina M.L.; Fung, Eva L.; DʼArrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M.; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C.; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo S.; Bertini, Enrico; Goizet, Cyril; Fribourg, Sébastien; Wolf, Nicole I.; Bernard, Geneviève
Neurology: Genetics. Dec 01, 2019 5(6)
Academic Journal
Bryant, Laura; Li, Dong; Sherr, Elliott; Thompson, Michelle L; McWalter, Kirsty; Stumpel, Constance T R M; Stevens, Servi J C; Stegmann, Alexander P A; Tveten, Kristian; Vøllo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Fregeau, Brieana; Larsen, Martin J; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C; Dean, Joy; Schrier Vergano, Samantha A; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot I; Wierenga, Klaas J; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J; Cathey, Sara S; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Wadley, Alexandrea; Padilla, Natália; Crump, J Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H; Bhoj, Elizabeth J; Mancini, Grazia M S; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Cox, Samuel G; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Marchione, Dylan; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Joiner, Evan F; Monaghan, Kristin G; Study, DDD; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Wilson, Khadija; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Janssen, Kevin; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Consortium, Care4Rare Canada; Costain, Gregory; Lee, Pearl; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Study, CAUSES; Martin, Martin G; Martinez-Agosto, Julian A; Network, Undiagnosed Diseases; Nelson, Stan F; March, Michael E; Palmer, Christina G S; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Nair, Divya; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, K. E.
Sci Adv
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, vol. 6, no. 49, eabc9207. https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, vol 6, iss 49
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, vol. 6, no. 49, eabc9207. https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, vol 6, iss 49
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Academic Journal
Horn, Denise ; Prescott, Trine ; Houge, Gunnar ; Brække, Kristin ; Rosendahl, Karen ; Nishimura, Gen ; FitzPatrick, David R. ; Spranger, Jürgen
In European Journal of Medical Genetics August 2015 58(8):387-391
Academic Journal
Horn, Morten Andreas; Myhre, Anders Eivind; Prescott, Trine; Aasly, Jan; Sundal, Christina Heidemann; Gedde-Dahl, Tobias
Movement Disorders. 37:1108-1109
Academic Journal
Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D. M.; Lupski, James R.; Ren, Dejian; Yoon, Grace
The American Journal of Human Genetics. 98:202-209
Academic Journal
Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison
Academic Journal
Marcos, Séverine; Sarfati, Julie; Leroy, Chrystel; Fouveaut, Corinne; Parent, Philippe; Metz, Chantal; Wolczynski, Slawomir; Gerard, Marion; Bieth, Eric; Kurtz, François; Verier-Mine, Odile; Perrin, Laurence; Archambeaud, Françoise; Cabrol, Sylvie; Rodien, Patrice; Hove, Hanne; Prescott, Trine; Lacombe, Didier; Christin-Maitre, Sophie; Touraine, Philippe; Hieronimus, Sylvie; Dewailly, Didier; Young, Jacques; Pugeat, Michel; Hardelin, Jean-Pierre; Dode, Catherine
The Journal of Clinical Endocrinology & Metabolism. 99:E2138-E2143
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