학술논문
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'학술논문'
에서 검색결과 266건 | 목록
1~20
Academic Journal
James Lambton; Shotaro Asano; Yuxiang Huang; Fumi Suomi; Tomoya Eguchi; Magali Prigent; Cassidy Petree; Kevin Huang; Aliza Imam; Thomas J. McCorvie; Daniel Warren; Emma Hobson; Helen McCullagh; Doriana Misceo; Anna Bjerre; Marie F. Smeland; Claus Klingenberg; Eirik Frengen; Swati Naik; Gavin Ryan; Annapurna Sudarsanam; Katherine Foster; Pradeep Vasudevan; Rajib Samanta; Fatima Rahman; Shazia Maqbool; Vrajesh Udani; Henry Houlden; Robert McFarland; Jack J. Collier; Reza Maroofian; Wyatt W. Yue; Gaurav K. Varshney; Daniel J. Klionsky; Renaud Legouis; Thomas G. McWilliams; Noboru Mizushima; Monika Oláhová; Charlotte L. Alston; Robert W. Taylor
Academic Journal
Ghaffar, Amama; Akhter, Tehmeena; Strømme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogné, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Baláž, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima
Communications Biology. 7(1)
Academic Journal
Doriana Misceo; Lisa Lirussi; Petter Strømme; Dulika Sumathipala; Andrea Guerin; Nicole I Wolf; Andres Server; Maria Stensland; Bjørn Dalhus; Aslıhan Tolun; Hester Y Kroes; Tuula A Nyman; Hilde L Nilsen; Eirik Frengen
Brain
Misceo, D, Lirussi, L, Strømme, P, Sumathipala, D, Guerin, A, Wolf, N I, Server, A, Stensland, M, Dalhus, B, Tolun, A, Kroes, H Y, Nyman, T A, Nilsen, H L &Frengen , E 2023, 'A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis', Brain, vol. 146, no. 8, pp. 3513-3527. https://doi.org/10.1093/brain/awad086
Misceo, D, Lirussi, L, Strømme, P, Sumathipala, D, Guerin, A, Wolf, N I, Server, A, Stensland, M, Dalhus, B, Tolun, A, Kroes, H Y, Nyman, T A, Nilsen, H L &
Academic Journal
Hynes, Claire; Williams, Evan; Misceo, Doriana; Stromme, Petter; Frengen, Eirik; Kakumani, Pavan Kumar
Academic Journal
Ken Saida; Reza Maroofian; Toru Sengoku; Tadahiro Mitani; Alistair T. Pagnamenta; Dana Marafi; Maha S. Zaki; Thomas J. O’Brien; Ehsan Ghayoor Karimiani; Rauan Kaiyrzhanov; Marina Takizawa; Sachiko Ohori; Huey Yin Leong; Gulsen Akay; Hamid Galehdari; Mina Zamani; Ratna Romy; Christopher J. Carroll; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Hadis Malek; Najmeh Ahangari; Hoda Tomoum; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; David Murphy; Natalia Dominik; Hasnaa M. Elbendary; Karima Rafat; Sanem Yilmaz; Seda Kanmaz; Mine Serin; Deepa Krishnakumar; Alice Gardham; Anna Maw; Tekki Sreenivasa Rao; Sarah Alsubhi; Myriam Srour; Daniela Buhas; Tamison Jewett; Rachel E. Goldberg; Hanan Shamseldin; Eirik Frengen; Doriana Misceo; Petter Strømme; José Ricardo Magliocco Ceroni; Chong Ae Kim; Gozde Yesil; Esma Sengenc; Serhat Guler; Mariam Hull; Mered Parnes; Dilek Aktas; Banu Anlar; Yavuz Bayram; Davut Pehlivan; Jennifer E. Posey; Shahryar Alavi; Seyed Ali Madani Manshadi; Hamad Alzaidan; Mohammad Al-Owain; Lama Alabdi; Ferdous Abdulwahab; Futoshi Sekiguchi; Kohei Hamanaka; Atsushi Fujita; Yuri Uchiyama; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Reem M. Elshafie; Kamran Salayev; Ulviyya Guliyeva; Fowzan S. Alkuraya; Joseph G. Gleeson; Kristin G. Monaghan; Katherine G. Langley; Hui Yang; Mahsa Motavaf; Saeid Safari; Mozhgan Alipour; Kazuhiro Ogata; André E.X. Brown; James R. Lupski; Henry Houlden; Naomichi Matsumoto
Genetics in Medicine. 25:90-102
Academic Journal
Misceo, Doriana; Terkelsen, Thorkild; Boen Keim, Sara Margrete; Bjornstad, Pal Marius; Strand, Mari Elen; Orszagh, Vivian Cecilie; Jensen, Uffe Birk; Frengen, Eirik
Academic Journal
Misceo, Doriana; Strømme, Petter; Bitarafan, Fatemeh; Chawla, Maninder Singh; Sheng, Ying; Bach de Courtade, Sandra Monica; Eide, Lars; Frengen, Eirik
Genes. April, 2024, Vol. 15 Issue 4
Academic Journal
Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer ; Levy, Michael ; McConkey, Haley ; Barat-Houari, Mouna ; Butler, Kameryn M. ; Coubes, Christine ; Lee, Jennifer A. ; Le Guyader, Gwenael ; Louie, Raymond J. ; Patterson, Wesley G. ; Tedder, Matthew L. ; Bak, Mads ; Hammer, Trine Bjørg ; Craigen, William ; Démurger, Florence ; Dubourg, Christèle ; Fradin, Mélanie ; Franciskovich, Rachel ; Frengen, Eirik ; Friedman, Jennifer ; Palares, Nathalie Ruiz ; Iascone, Maria ; Misceo, Doriana ; Monin, Pauline ; Odent, Sylvie ; Philippe, Christophe ; Rouxel, Flavien ; Saletti, Veronica ; Strømme, Petter ; Thulin, Perla Cassayre ; Sadikovic, Bekim ; Genevieve, David
In Genetics in Medicine April 2022 24(4):905-914
Academic Journal
Anne Slavotinek; Doriana Misceo; Stephanie Htun; Linda Mathisen; Eirik Frengen; Michelle Foreman; Jennifer E Hurtig; Liz Enyenihi; Maria C Sterrett; Sara W Leung; Dina Schneidman-Duhovny; Juvianee Estrada-Veras; Jacque L Duncan; Charlotte A Haaxma; Erik-Jan Kamsteeg; Vivian Xia; Daniah Beleford; Yue Si; Ganka Douglas; Hans Einar Treidene; Ambro van Hoof; Milo B Fasken; Anita H Corbett
Human Molecular Genetics, 29, 13, pp. 2218-2239
Human Molecular Genetics, vol 29, iss 13
Human Molecular Genetics, vol 29, iss 13
Academic Journal
Dulika S, Sumathipala; Doriana, Misceo; Selma Mujezinovic, Larsen; Tuva, Barøy; Thilini H, Gamage; Eirik, Frengen; Petter, Strømme
Clinical Dysmorphology. 29:107-110
Academic Journal
Thilini H. Gamage; Herwig Grabmayr; Ferdinand Horvath; Marc Fahrner; Doriana Misceo; William Edward Louch; Gjermund Gunnes; Helen Pullisaar; Janne Elin Reseland; Staale Petter Lyngstadaas; Asbjørn Holmgren; Silja S. Amundsen; Petr Rathner; Linda Cerofolini; Enrico Ravera; Heinrich Krobath; Claudio Luchinat; Thomas Renger; Norbert Müller; Christoph Romanin; Eirik Frengen
Science Signaling
Academic Journal
Gamage, Thilini H. ; Lengle, Emma ; Gunnes, Gjermund ; Pullisaar, Helen ; Holmgren, Asbjørn ; Reseland, Janne E. ; Merckoll, Else ; Corti, Stefania ; Mizobuchi, Masahiro ; Morales, Raul J. ; Tsiokas, Leonidas ; Tjønnfjord, Geir E. ; Lacruz, Rodrigo S. ; Lyngstadaas, Staale P. ; Misceo, Doriana ; Frengen, Eirik
In Cell Calcium January 2020 85
Academic Journal
Dulika Sumathipala; Petter Strømme; Christian Gilissen; Ingunn Holm Einarsen; Hilde J. Bjørndalen; Andrés Server; Jordi Corominas; Bjørnar Hassel; Madeleine Fannemel; Doriana Misceo; Eirik Frengen
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Academic Journal
Thilini H. Gamage; Gjermund Gunnes; Robert Hugh Lee; William Edward Louch; Asbjørn Holmgren; Joseph D. Bruton; Emma Lengle; Terje R. Selnes Kolstad; Tobias Revold; Silja Svanstrøm Amundsen; Knut Tomas Dalen; Pål Andre Holme; Geir Erland Tjønnfjord; Geir Christensen; Håkan Westerblad; Arne Klungland; Wolfgang Bergmeier; Doriana Misceo; Eirik Frengen
Cell Calcium. 76:87-100
Academic Journal
Ansar, Muhammad ; Riazuddin, Saima ; Sarwar, Muhammad Tahir ; Makrythanasis, Periklis ; Paracha, Sohail Aziz ; Iqbal, Zafar ; Khan, Jamshed ; Assir, Muhammad Zaman ; Hussain, Mureed ; Razzaq, Attia ; Polla, Daniel Lôpo ; Taj, Abid Sohail ; Holmgren, Asbjørn ; Batool, Naila ; Misceo, Doriana ; Iwaszkiewicz, Justyna ; de Brouwer, Arjan P.M. ; Guipponi, Michel ; Hanquinet, Sylviane ; Zoete, Vincent ; Santoni, Federico A. ; Frengen, Eirik ; Ahmed, Jawad ; Riazuddin, Sheikh ; van Bokhoven, Hans ; Antonarakis, Stylianos E.
In Genetics in Medicine July 2018 20(7):778-784
Academic Journal
Cooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Little, Martin; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradere, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M.; Vos, Robin; Filby, Andrew J.; Fisher, Andrew J.; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurelien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Olahova, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Roisin; Ng, Yi Shiau; Franklin, Imogen; Blakely, Emma; Buechner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pizzamiglio, Chiara; Prokisch, Holger; Schaefer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Grainne; Woodward, Cathy; McFarland, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Hollingsworth, Kieren G.; Pratt, Arthur G.; Egail, Maha; Di Leo, Valeria; Taylor, Robert W.; Dodds, Richard; Anderson, Amy E.; Sayer, Avan Aihie; Isaacs, John D.; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Resteu, Anastasia; Wonders, Kristy; Schattenberg, Joern; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Romero-Gomez, Manuel; Bugianesi, Elisabetta; Paradis, Valerie; Ratziu, Vlad; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M.; Bloom, Chloe I.; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Schattenberg, Joern M.; Daly, Ann K.; Anstee, Quentin M.
Academic Journal
Gabriele, Michele ; Vulto-van Silfhout, Anneke T. ; Germain, Pierre-Luc ; Vitriolo, Alessandro ; Kumar, Raman ; Douglas, Evelyn ; Haan, Eric ; Kosaki, Kenjiro ; Takenouchi, Toshiki ; Rauch, Anita ; Steindl, Katharina ; Frengen, Eirik ; Misceo, Doriana ; Pedurupillay, Christeen Ramane J. ; Stromme, Petter ; Rosenfeld, Jill A. ; Shao, Yunru ; Craigen, William J. ; Schaaf, Christian P. ; Rodriguez-Buritica, David ; Farach, Laura ; Friedman, Jennifer ; Thulin, Perla ; McLean, Scott D. ; Nugent, Kimberly M. ; Morton, Jenny ; Nicholl, Jillian ; Andrieux, Joris ; Stray-Pedersen, Asbjørg ; Chambon, Pascal ; Patrier, Sophie ; Lynch, Sally A. ; Kjaergaard, Susanne ; Tørring, Pernille M. ; Brasch-Andersen, Charlotte ; Ronan, Anne ; van Haeringen, Arie ; Anderson, Peter J. ; Powis, Zöe ; Brunner, Han G. ; Pfundt, Rolph ; Schuurs-Hoeijmakers, Janneke H.M. ; van Bon, Bregje W.M. ; Lelieveld, Stefan ; Gilissen, Christian ; Nillesen, Willy M. ; Vissers, Lisenka E.L.M. ; Gecz, Jozef ; Koolen, David A. ; Testa, Giuseppe ; de Vries, Bert B.A.
In The American Journal of Human Genetics 1 June 2017 100(6):907-925
Academic Journal
Barøy, Tuva ; Pedurupillay, Christeen Ramane J. ; Bliksrud, Yngve T. ; Rasmussen, Magnhild ; Holmgren, Asbjørn ; Vigeland, Magnus D. ; Hughes, Timothy ; Brink, Maaike ; Rodenburg, Richard ; Nedregaard, Bård ; Strømme, Petter ; Frengen, Eirik ; Misceo, Doriana
In European Journal of Medical Genetics June 2016 59(6-7):342-346
Academic Journal
Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter
Clinical Dysmorphology. Apr 01, 2020 29(2):107-110
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