학술논문
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'학술논문'
에서 검색결과 650건 | 목록
1~20
Academic Journal
Journal of the American Academy of Child & Adolescent Psychiatry. 63(6):571-573
Academic Journal
Chintalapati, Keerthana, BA; Pearson, Toni S., MD; Ueda, Keisuke, MD; Aravamuthan, Bhooma R., MD, DPhil
Pediatric Neurology. 148:8-13
Academic Journal
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah, I; Bennett, James T.; Sahin, Mustafa
Brain. 143(10):2929-2944
Academic Journal
Allesøe, Rosa Lundbye; Lundgaard, Agnete Troen; Hernández Medina, Ricardo; Aguayo-Orozco, Alejandro; Johansen, Joachim; Nissen, Jakob Nybo; Brorsson, Caroline; Mazzoni, Gianluca; Niu, Lili; Biel, Jorge Hernansanz; Brasas, Valentas; Webel, Henry; Benros, Michael Eriksen; Pedersen, Anders Gorm; Chmura, Piotr Jaroslaw; Jacobsen, Ulrik Plesner; Mari, Andrea; Koivula, Robert; Mahajan, Anubha; Vinuela, Ana; Tajes, Juan Fernandez; Sharma, Sapna; Haid, Mark; Hong, Mun-Gwan; Musholt, Petra B.; De Masi, Federico; Vogt, Josef; Pedersen, Helle Krogh; Gudmundsdottir, Valborg; Jones, Angus; Kennedy, Gwen; Bell, Jimmy; Thomas, E. Louise; Frost, Gary; Thomsen, Henrik; Hansen, Elizaveta; Hansen, Tue Haldor; Vestergaard, Henrik; Muilwijk, Mirthe; Blom, Marieke T.; ‘t Hart, Leen M.; Pattou, Francois; Raverdy, Violeta; Brage, Soren; Kokkola, Tarja; Heggie, Alison; McEvoy, Donna; Mourby, Miranda; Kaye, Jane; Hattersley, Andrew; McDonald, Timothy; Ridderstråle, Martin; Walker, Mark; Forgie, Ian; Giordano, Giuseppe N.; Pavo, Imre; Ruetten, Hartmut; Pedersen, Oluf; Hansen, Torben; Dermitzakis, Emmanouil; Franks, Paul W.; Schwenk, Jochen M.; Adamski, Jerzy; McCarthy, Mark I.; Pearson, Ewan; Banasik, Karina; Rasmussen, Simon; Brunak, Søren; Froguel, Philippe; Thomas, Cecilia Engel; Häussler, Ragna S.; Beulens, Joline; Rutters, Femke; Nijpels, Giel; van Oort, Sabine; Groeneveld, Lenka; Elders, Petra; Giorgino, Toni; Rodriquez, Marianne; Nice, Rachel; Perry, Mandy; Bianzano, Susanna; Graefe-Mody, Ulrike; Hennige, Anita; Grempler, Rolf; Baum, Patrick; Stærfeldt, Hans Henrik; Shah, Nisha; Teare, Harriet; Ehrhardt, Beate; Tillner, Joachim; Dings, Christiane; Lehr, Thorsten; Scherer, Nina; Sihinevich, Iryna; Cabrelli, Louise; Loftus, Heather; Bizzotto, Roberto; Tura, Andrea; Dekkers, Koen
Nature Biotechnology. 41(3):399-408
Academic Journal
Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M; Lignani, Gabriele; Barral, Serena; Kurian, Manju A
Brain
Academic Journal
MacPherson, Amanda; Gumnit, Elias; Ouimet, Charlotte; Hutchinson, Nora; Kieburtz, Karl; Pearson, Toni S.; Kimmelman, Jonathan
Neurotherapeutics. 19(5):1507-1513
Academic Journal
Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina ; Kim, Sung-Hoon ; Huang, Kevin ; Rocca, Clarissa ; Landsverk, Megan ; Zaki, Maha S. ; Al-Maawali, Almundher ; Srinivasan, Varunvenkat M. ; Al-Thihli, Khalid ; Schaefer, G. Bradly ; Davis, Monica ; Tonduti, Davide ; Doneda, Chiara ; Marten, Lara M. ; Mühlhausen, Chris ; Gomez, Maria ; Lamantea, Eleonora ; Mena, Rafael ; Nizon, Mathilde ; Procaccio, Vincent ; Begtrup, Amber ; Telegrafi, Aida ; Cui, Hong ; Schulz, Heidi L. ; Mohr, Julia ; Biskup, Saskia ; Loos, Mariana Amina ; Aráoz, Hilda Verónica ; Salpietro, Vincenzo ; Keppen, Laura Davis ; Chitre, Manali ; Petree, Cassidy ; Raymond, Lucy ; Vogt, Julie ; Sawyer, Lindsey B. ; Basinger, Alice A. ; Pedersen, Signe Vandal ; Pearson, Toni S. ; Grange, Dorothy K. ; Lingappa, Lokesh ; McDunnah, Paige ; Horvath, Rita ; Cognè, Benjamin ; Isidor, Bertrand ; Hahn, Andreas ; Gripp, Karen W. ; Jafarnejad, Seyed Mehdi ; Østergaard, Elsebet ; Prada, Carlos E. ; Ghezzi, Daniele ; Gowda, Vykuntaraju K. ; Taylor, Robert W. ; Sonenberg, Nahum ; Houlden, Henry ; Sissler, Marie ; Varshney, Gaurav K. ; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Jaleel, Fayza; Rust, Alyssa; Cheung, Shirley; Pearson, Toni S.; Ueda, Keisuke; Robichaux‐Viehoever, Amy; Leger, Katie; Chintalapati, Keerthana; Guez‐Barber, Danielle; Shusterman, Michele; Aravamuthan, Bhooma
Annals of Clinical and Translational Neurology. February, 2024, Vol. 11 Issue 2, p242, 250 p.
Academic Journal
Bondarenko, Mariya Sigatullina; Hubschmann, Oya Kuseyri; Kulhanek, Jan; Pons, Roser; Pearson, Toni S.; Jeltsch, Kathrin; Badnjarevic, Ivana; Wassenberg, Tessa; Horvath, Gabriella; Stevanovic, Galina; Kurian, Manju A.; Cortes-Saladelafont, Elisenda; Roubertie, Agathe; Leuzzi, Vincenzo; Bertoldi, Mariarita; Mastrangelo, Mario; Assmann, Birgit; Garcia-Cazorla, Angeles; Opladen, Thomas; THD Guidelines Working Grp
Academic Journal
Annals of the Child Neurology Society, Vol 1, Iss 2, Pp 162-167 (2023)
Academic Journal
Michelle M. Lee; Graeme S. V. McDowell; Darryl C. De Vivo; Daniel Friedman; Samuel F. Berkovic; Maria Spanou; Argirios Dinopoulos; Katheryn Grand; Pedro A. Sanchez‐Lara; Michelle Allen‐Sharpley; Jodi Warman‐Chardon; Alexander Solyom; Thierry Levade; Edward H. Schuchman; Steffany A. L. Bennett; David A. Dyment; Toni S. Pearson
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1941-1952 (2022)
Academic Journal
Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Meijer, Inge A., MD, PhD; Pearson, Toni S., MD
Seminars in Pediatric Neurology. 25:65-74
Academic Journal
Joerg Klepper; Cigdem I. Akman; Marisa Armeno; Stéphane Auvin; Mackenzie C. Cervenka; J. Helen Cross; Valentina De Giorgis; Adela Della Marina; Kristin Engelstad; Nicole Heußinger; Eric H. Kossoff; Wilhelmina G. Leen; B. Leiendecker; Umrao R. Monani; Hirokazu Oguni; Elizabeth Neal; Juan M. Pascual; Toni S. Pearson; Roser Pons; Ingrid E. Scheffer; Pierangelo Veggiotti; Michèl A.A.P. Willemsen; Sameer M. Zuberi; Darryl C. De Vivo
Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Epilepsia Open, 5, 3, pp. 354-365
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Epilepsia Open, 5, 3, pp. 354-365
Academic Journal
Toni S. Pearson; Nalin Gupta; Waldy San Sebastian; Jill Imamura-Ching; Amy Viehoever; Ana Grijalvo-Perez; Alex J. Fay; Neha Seth; Shannon M. Lundy; Youngho Seo; Miguel Pampaloni; Keith Hyland; Erin Smith; Gardenia de Oliveira Barbosa; Jill C. Heathcock; Amy Minnema; Russell Lonser; J. Bradley Elder; Jeffrey Leonard; Paul Larson; Krystof S. Bankiewicz
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Academic Journal
Pons, Roser; Pearson, Toni S.; Perez-Duenas, Belen; Garcia-Cazorla, Angels; Kurian, Manju A.; Dalivigka, Zoi; Zouvelou, Vasiliki; Outsika, Chrysa; Kokkinou, Eleftheria; Sigatullina-Bondarenko, Maria; Darling, Alejandra; O'Callaghan, Maria del Mar; Spaull, Robert; Steel, Dora B. D.; Salamou, Evdokia; Forjaz, Maria Joao; Rodriguez-Blazquez, Carmen
Academic Journal
Oya Kuseyri Hübschmann; Gabriella Horvath; Elisenda Cortès-Saladelafont; Yılmaz Yıldız; Mario Mastrangelo; Roser Pons; Jennifer Friedman; Saadet Mercimek-Andrews; Suet-Na Wong; Toni S. Pearson; Dimitrios I. Zafeiriou; Jan Kulhánek; Manju A. Kurian; Eduardo López-Laso; Mari Oppebøen; Sebile Kılavuz; Tessa Wassenberg; Helly Goez; Sabine Scholl-Bürgi; Francesco Porta; Tomáš Honzík; René Santer; Alberto Burlina; H. Serap Sivri; Vincenzo Leuzzi; Georg F. Hoffmann; Kathrin Jeltsch; Daniel Hübschmann; Sven F. Garbade; iNTD Registry Study Group; Angeles García-Cazorla; Thomas Opladen
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Academic Journal
Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa
J Inherit Metab Dis
Academic Journal
Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M.; Agarwala, Vineeta; Gaulton, Kyle J.; Caulkins, Lizz; Koesterer, Ryan; Ma, Clement; Moutsianas, Loukas; McCarthy, Davis J.; Rivas, Manuel A.; Perry, John R. B.; Sim, Xueling; Blackwell, Thomas W.; Robertson, Neil R.; Rayner, N. William; Cingolani, Pablo; Locke, Adam E.; Tajes, Juan Fernandez; Highland, Heather M.; Dupuis, Josee; Chines, Peter S.; Lindgren, Cecilia M.; Hartl, Christopher; Jackson, Anne U.; Chen, Han; Huyghe, Jeroen R.; De Bunt, Martijn Van; Pearson, Richard D.; Kumar, Ashish; Muller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M.; Gamazon, Eric R.; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A.; Below, Jennifer E.; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L.; Pasko, Dorota; Parker, Stephen C. J.; Varga, Tibor V.; Green, Todd; Beer, Nicola L.; Day-Williams, Aaron G.; Ferreira, Teresa; Fingerlin, Tasha; Horikoshi, Momoko; Hu, Cheng; Huh, Iksoo; Ikram, Mohammad Kamran; Kim, Bong-Jo; Kim, Yongkang; Kim, Young Jin; Kwon, Min-Seok; Lee, Juyoung; Lee, Selyeong; Lin, Keng-Han; Maxwell, Taylor J.; Nagai, Yoshihiko; Wang, Xu; Welch, Ryan P.; Yoon, Joon; Zhang, Weihua; Barzilai, Nir; Voight, Benjamin F.; Han, Bok-Ghee; Jenkinson, Christopher P.; Kuulasmaa, Teemu; Kuusisto, Johanna; Manning, Alisa; Ng, Maggie C. Y.; Palmer, Nicholette D.; Balkau, Beverley; Stancakova, Alena; Abboud, Hanna E.; Boeing, Heiner; Giedraitis, Vilmantas; Prabhakaran, Dorairaj; Gottesman, Omri; Scott, James; Carey, Jason; Kwan, Phoenix; Grant, George; Smith, Joshua D.; Neale, Benjamin M.; Purcell, Shaun; Butterworth, Adam S.; Howson, Joanna M. M.; Lee, Heung Man; Lu, Yingchang; Kwak, Soo-Heon; Zhao, Wei; Danesh, John; Lam, Vincent K. L.; Park, Kyong Soo; Saleheen, Danish; So, Wing Yee; Tam, Claudia H. T.; Afzal, Uzma; Aguilar, David; Arya, Rector; Aung, Tin; Chan, Edmund; Navarro, Carmen; Cheng, Ching-Yu; Palli, Domenico; Correa, Adolfo; Curran, Joanne E.; Rybin, Dennis; Farook, Vidya S.; Fowler, Sharon P.; Freedman, Barry I.; Griswold, Michael; Hale, Daniel Esten; Hicks, Pamela J.; Khor, Chiea-Chuen; Kumar, Satish; Lehne, Benjamin; Thuillier, Dorothee; Lim, Wei Yen; Liu, Jianjun; Loh, Marie; Musani, Solomon K.; Puppala, Sobha; Scott, William R.; Yengo, Loic; Tan, Sian-Tsung; Taylor, Herman A.; Thameem, Farook; Wilson, Gregory; Wong, Tien Yin; Njolstad, Pal Rasmus; Levy, Jonathan C.; Mangino, Massimo; Bonnycastle, Lori L.; Schwarzmayr, Thomas; Fadista, Joao; Surdulescu, Gabriela L.; Herder, Christian; Groves, Christopher J.; Wieland, Thomas; Bork-Jensen, Jette; Brandslund, Ivan; Christensen, Cramer; Koistinen, Heikki A.; Doney, Alex S. F.; Kinnunen, Leena; Esko, Tonu; Farmer, Andrew J.; Hakaste, Liisa; Hodgkiss, Dylan; Kravic, Jasmina; Lyssenko, Valeriya; Hollensted, Mette; Jorgensen, Marit E.; Jorgensen, Torben; Ladenvall, Claes; Justesen, Johanne Marie; Karajamaki, Annemari; Kriebel, Jennifer; Rathmann, Wolfgang; Lannfelt, Lars; Lauritzen, Torsten; Narisu, Narisu; Linneberg, Allan; Melander, Olle; Milani, Lili; Neville, Matt; Orho-Melander, Marju; Qi, Lu; Qi, Qibin; Roden, Michael; Rolandsson, Olov; Swift, Amy; Rosengren, Anders H.; Stirrups, Kathleen; Wood, Andrew R.; Mihailov, Evelin; Blancher, Christine; Carneiro, Mauricio O.; Maguire, Jared; Poplin, Ryan; Shakir, Khalid; Fennell, Timothy; DePristo, Mark; De Angelis, Martin Hrabe; Deloukas, Panos; Gjesing, Anette P.; Jun, Goo; Nilsson, Peter M.; Murphy, Jacquelyn; Onofrio, Robert; Thorand, Barbara; Hansen, Torben; Meisinger, Christa; Hu, Frank B.; Isomaa, Bo; Karpe, Fredrik; Liang, Liming; Peters, Annette; Huth, Cornelia; O'Rahilly, Stephen P.; Palmer, Colin N. A.; Pedersen, Oluf; Rauramaa, Rainer; Tuomilehto, Jaakko; Salomaa, Veikko; Watanabe, Richard M.; Syvanen, Ann-Christine; Bergman, Richard N.; Bharadwaj, Dwaipayan; Bottinger, Erwin P.; Cho, Yoon Shin; Chandak, Giriraj R.; Chan, Juliana Cn; Chia, Kee Seng; Daly, Mark J.; Ebrahim, Shah B.; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A.; Lehman, Donna M.; Jia, Weiping; Ma, Ronald Cw; Pollin, Toni I.; Sandhu, Manjinder; Tandon, Nikhil; Froguel, Philippe; Barroso, Ines; Teo, Yik Ying; Zeggini, Eleftheria; Loos, Ruth J. F.; Small, Kerrin S.; Ried, Janina S.; DeFronzo, Ralph A.; Grallert, Harald; Glaser, Benjamin; Metspalu, Andres; Wareham, Nicholas J.; Walker, Mark; Banks, Eric; Gieger, Christian; Ingelsson, Erik; Im, Hae Kyung; Illig, Thomas; Franks, Paul W.; Buck, Gemma; Trakalo, Joseph; Buck, David; Prokopenko, Inga; Magi, Reedik; Lind, Lars; Farjoun, Yossi; Owen, Katharine R.; Gloyn, Anna L.; Strauch, Konstantin; Tuomi, Tiinamaija; Kooner, Jaspal Singh; Lee, Jong-Young; Park, Taesung; Donnelly, Peter; Morris, Andrew D.; Hattersley, Andrew T.; Bowden, Donald W.; Collins, Francis S.; Atzmon, Gil; Chambers, John C.; Spector, Timothy D.; Laakso, Markku; Strom, Tim M.; Bell, Graeme I.; Blangero, John; Duggirala, Ravindranath; Tai, EShyong; McVean, Gilean; Hanis, Craig L.; Wilson, James G.; Seielstad, Mark; Frayling, Timothy M.; Meigs, James B.; Cox, Nancy J.; Sladek, Rob; Lander, Eric S.; Gabriel, Stacey; Mohlke, Karen L.; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Scott, Laura J.; Morris, Andrew P.; Kang, Hyun Min; Altshuler, David; Burtt, Noel P.; Florez, Jose C.; Boehnke, Michael; McCarthy, Mark I.
Scientific Data. 4
Academic Journal
Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S. Pearson; H. Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A. Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F. Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M. Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann; on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
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[검색어] Pearson, Toni S.
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