학술논문
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'학술논문'
에서 검색결과 176건 | 목록
1~20
Academic Journal
Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; de Vries, Petrus J; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J Chris; TOSCA Investigators
Orphanet Journal of Rare Diseases. 16:1-15
Academic Journal
Chambers, Nola; Heunis, Tosca-Marie; Gardner-Lubbe, Sugnet; Capal, Jamie K.; Bissell, Stacey; Byars, Anna W.; Cukier, Sebastián; Davis, Peter E.; Flinn, Jennifer; Gipson, Tanjala T.; Kingswood, J. Chris; Kumm, Aubrey J.; Schoeters, Eva; Smith, Catherine; Srivastava, Shoba; Takei, Megumi; Vanclooster, Stephanie; van Eeghen, Agnies M.; Waltereit, Robert; Krueger, Darcy A.; Sahin, Mustafa; De Waele, Liesbeth; Jansen, Anna C.; de Vries, Petrus J.
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Petrus J. de Vries; Tosca-Marie Heunis; Stephanie Vanclooster; Nola Chambers; Stacey Bissell; Anna W. Byars; Jennifer Flinn; Tanjala T. Gipson; Agnies M. van Eeghen; Robert Waltereit; Jamie K. Capal; Sebastián Cukier; Peter E. Davis; Catherine Smith; J. Chris Kingswood; Eva Schoeters; Shoba Srivastava; Megumi Takei; Sugnet Gardner-Lubbe; Aubrey J. Kumm; Darcy A. Krueger; Mustafa Sahin; Liesbeth De Waele; Anna C. Jansen
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-20 (2023)
Academic Journal
Hope Northrup; Mary E. Aronow; E. Martina Bebin; John Bissler; Thomas N. Darling; Petrus J. de Vries; Michael D. Frost; Zoë Fuchs; Elizabeth S. Gosnell; Nishant Gupta; Anna C. Jansen; Sergiusz Jóźwiak; J. Chris Kingswood; Timothy K. Knilans; Francis X. McCormack; Ashley Pounders; Steven L. Roberds; David F. Rodriguez-Buritica; Jonathan Roth; Julian R. Sampson; Steven Sparagana; Elizabeth Anne Thiele; Howard L. Weiner; James W. Wheless; Alexander J. Towbin; Darcy A. Krueger; Nicholas M.P. Annear; Ute Bartels; Moncef Berhouma; John J. Bissler; Klemens Budde; Anna Byars; Harry Chugani; Edward W. Cowen; Peter B. Crino; Paolo Curatolo; Petrus de Vries; Daniel F. Dilling; David W. Dunn; Rosmary Ekong; Kevin C. Ess; David N. Franz; Michael Frost; Zoë D.B. Fuchs; Elizabeth Gosnell; Lisa Guay-Woodford; Luciana Haddad; Anne Halbert; Adelaide A. Hebert; Elizabeth P. Henske; Gregory L. Holmes; Dena Hook; John Hulbert; Anna Jansen; Simon R. Johnson; Bryan King; J. Christopher Kingswood; Mary Kay Koenig; Bruce Korf; David J. Kwiatkowski; Joel Moss; David Mowat; Kate Mowrey; Rima Nabbout; Mark D. Nellist; Finbar O'Callaghan; Uday Patel; E. Steve Roach; David Rodriguez-Buritica; Robb Romp; Micaela Rozenberg; Stephen J. Ruoss; Mustafa Sahin; Julian Sampson; Joshua A. Samuels; Matthias Sauter; Catherine A. Smith; Keyomaurs Soltani; Shoba Srivastava; Clare Stuart; Joyce M.C. Teng; Elizabeth A. Thiele; Andrew Trout; Agnies van Eeghen; Stephanie Vanclooster; Henry Z. Wang; Mari Wataya-Kaneda; Patricia Witman; Tim Wright; Joyce Y. Wu; Lisa Young
International Tuberous Sclerosis Complex Consensus Group 2021, 'Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations', Pediatric Neurology, vol. 123, pp. 50-66. https://doi.org/10.1016/j .pediatrneurol.2021.07.011
Academic Journal
Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Lisa D’Amato; Guillaume Beure d’Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O’Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; J. Chris Kingswood; Anna C. Jansen; on behalf of TOSCA Consortium and TOSCA Investigators
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-13 (2020)
Academic Journal
Rima Nabbout; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; Petrus J. de Vries; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Finbar O'Callaghan; Jiong Qin; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C. Jansen; J. Chris Kingswood
Frontiers in Neurology, Vol 12 (2021)
Academic Journal
Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D’Amato; Guillaume B. d’Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; J. Chris Kingswood; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O’Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C. Jansen; on behalf of TOSCA Consortium and TOSCA Investigators
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
Academic Journal
J. Chris Kingswood; Elena Belousova; Mirjana P. Benedik; Klemens Budde; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume B. d'Augères; Petrus J. de Vries; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C. Jansen; TOSCA Consortium and TOSCA Investigators
Frontiers in Neurology, Vol 12 (2021)
Academic Journal
J. Chris Kingswood; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; Petrus J. de Vries; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C. Jansen; Matthias Sauter
Frontiers in Neurology, Vol 11 (2020)
Academic Journal
Anna C. Jansen; Stephanie Vanclooster; Petrus J. de Vries; Carla Fladrowski; Guillaume Beaure d'Augères; Tom Carter; Elena Belousova; Mirjana P. Benedik; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; José C. Ferreira; Martha Feucht; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; J. Chris Kingswood
Frontiers in Neurology, Vol 11 (2020)
Academic Journal
Matthias Sauter; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D’Amato; Guillaume B. d’Augères; Petrus J. de Vries; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O’Callaghan; Jiong Qin; Valentin Sander; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna Jansen; J. Chris Kingswood; Nobuo Shinohara; Shigeo Horie; Masaya Kubota; Jun Tohyama; Katsumi Imai; Mari Kaneda; Hideo Kaneko; Yasushi Uchida; Tomoko Kirino; Shoichi Endo; Yoshikazu Inoue; Katsuhisa Uruno; Ayse Serdaroglu; Zuhal Yapici; Banu Anlar; Sakir Altunbasak; Olga Lvova; Oleg Valeryevich Belyaev; Oleg Agranovich; Elena Vladislavovna Levitina; Yulia Vladimirovna Maksimova; Antonina Karas; Yuwu Jiang; Liping Zou; Kaifeng Xu; Yushi Zhang; Guoming Luan; Yuqin Zhang; Yi Wang; Meiling Jin; Dingwei Ye; Weiping Liao; Liemin Zhou; Jie Liu; Jianxiang Liao; Bo YAN; Yanchun Deng; Li Jiang; Zhisheng Liu; Shaoping Huang; Hua Li; Kijoong Kim; Pei-Lung Chen; Hsiu-Fen Lee; Jeng-Dau Tsai; Ching-Shiang Chi; Chao-Ching Huang; Kate Riney; Deborah Yates; Patrick Kwan; Surachai Likasitwattanakul; Charcrin Nabangchang; Lunliya Thampratankul Krisnachai Chomtho; Kamornwan Katanyuwong; Somjit Sriudomkajorn; Jo Wilmshurst; Reeval Segel; Tal Gilboa; Michal Tzadok; Aviva Fattal- Valevski; Panagiotis Papathanasopoulos; Antigone Syrigou Papavasiliou; Stylianos Giannakodimos; Stylianos Gatzonis; Evangelos Pavlou; Meropi Tzoufi; A. M. H. Vergeer; Marc Dhooghe; Hélène Verhelst; Filip Roelens; Marie Cecile Nassogne; Pierre Defresne; Liesbeth De Waele; Patricia Leroy; Nathalie Demonceau; Benjamin Legros; Patrick Van Bogaert; Berten Ceulemans; Lina Dom; Pierre Castelnau; Anne De Saint Martin; Audrey Riquet; Mathieu Milh; Claude Cances; Jean-Michel Pedespan; Dorothee Ville; Agathe Roubertie; Stéphane Auvin; Patrick Berquin; Christian Richelme; Catherine Allaire; Sophie Gueden; Sylvie Nguyen The Tich; Bertrand Godet; Maria Luz Ruiz Falco Rojas; Jaume Campistol Planas; Antonio Martinez Bermejo; Patricia Smeyers Dura; Susana Roldan Aparicio; Maria Jesus Martinez Gonzalez; Javier Lopez Pison; Manuel Oscar Blanco Barca; Eduardo Lopez Laso; Olga Alonso Luengo; Francisco Javier Aguirre Rodriguez; Ignacio Malaga Dieguez; Ana Camacho Salas; Itxaso Marti Carrera; Eduardo Martinez Salcedo; Maria Eugenia Yoldi Petri; Ramon Cancho Candela; Ines da Conceicao Carrilho; Jose Pedro Vieira; José Paulo da Silva Oliveira Monteiro; Miguel Jorge Santos de Oliveira Ferreira Leao; Catarina Sofia Marceano Ribeiro Luis; Carla Pires Mendonca; Milda Endziniene; Jurgis Strautmanis; Inga Talvik; Maria Paola Canevini; Antonio Gambardella; Dario Pruna; Salvatore Buono; Elena Fontana; Bernardo Dalla Bernardina; Carmen Burloiu; Iuliu Stefan Bacos Cosma; Mihaela Adela Vintan; Laura Popescu; Karel Zitterbart; Jaroslava Payerova; Ladislav Bratsky; Zuzana Zilinska; Ursula Gruber-Sedlmayr; Matthias Baumann; Edda Haberlandt; Kevin Rostasy; Ekaterina Pataraia; Frances Elmslie; Clare Ann Johnston; Pamela Crawford; Peter Uldall; Paul Uvebrant; Olof Rask; Marit Bjoernvold; Eylert Brodtkorb; Andreas Sloerdahl; Ragnar Solhoff; Martine Sofie Gilje Jaatun; Marek Mandera; Elzbieta Janina Radzikowska; Mariusz Wysocki; Michael Fischereder; Gerhard Kurlemann; Bernd Wilken; Adelheid Wiemer-Kruel; Klemens Budde; Klaus Marquard; Markus Knuf; Andreas Hahn; Hans Hartmann; Andreas Merkenschlager; Regina Trollmann
Orphanet J Rare Dis
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet Journal of Rare Diseases
Article number: 301
ORPHANET JOURNAL OF RARE DISEASES
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet Journal of Rare Diseases
Article number: 301
ORPHANET JOURNAL OF RARE DISEASES
Academic Journal
In Paediatrics and Child Health October 2015 25(10):467-473
Academic Journal
Nicholas M. P. Annear; Richard E. Appleton; Zahabiyah Bassi; Rupesh Bhatt; Patrick F. Bolton; Pamela Crawford; Alex Crowe; Maureen Tossi; Frances Elmslie; Eric Finlay; Daniel P. Gale; Alex Henderson; Elizabeth A. Jones; Simon R. Johnson; Shelagh Joss; Larissa Kerecuk; Graham Lipkin; Patrick J. Morrison; Finbar J. O'Callaghan; Jill Cadwgan; Albert C. M. Ong; Julian R. Sampson; Charles Shepherd; J. Chris Kingswood
Frontiers in Neurology, Vol 10 (2019)
Academic Journal
J Chris, Kingswood; Sergiusz, Jozwiak; Elena D, Belousova; Michael D, Frost; Rachel A, Kuperman; E Martina, Bebin; Bruce R, Korf; J Robert, Flamini; Michael H, Kohrman; Steven P, Sparagana; Joyce Y, Wu; Thomas, Brechenmacher; Karen, Stein; Noah, Berkowitz; John J, Bissler; David N, Franz
Nephrology Dialysis Transplantation. 29:1203-1210
Academic Journal
D Mark, Davies; Simon R, Johnson; Anne E, Tattersfield; J Chris, Kingswood; Jane A, Cox; Deborah L, McCartney; Tim, Doyle; Frances, Elmslie; Anand, Saggar; Petrus J, de Vries; Julian R, Sampson
New England Journal of Medicine. 358:200-203
Academic Journal
Krueger, Darcy A., MD PhD; Northrup, Hope, MD; Roberds, Steven, PhD; Smith, Katie; Sampson, Julian, DM, FRCP, FMedSci; Korf, Bruce, MD, PhD; Kwiatkowski, David J., MD PhD; Mowat, David, MD; Nellist, Mark, PhD; Povey, Sue, MD; de Vries, Petrus, MBChB, MRCPsych, PhD; Byars, Anna, PhD; Dunn, David, MD; Ess, Kevin, MD, PhD; Hook, Dena; Jansen, Anna, MD, PhD; King, Bryan, MD; Sahin, Mustafa, MD, PhD; Whittemore, Vicky, PhD; Thiele, Elizabeth, MD, PhD; Bebin, E. Martina, MD, MPA; Chugani, Harry T., MD; Crino, Peter, MD, PhD; Curatolo, Paolo, MD; Holmes, Greg, MD; Nabbout, Rima, MD, PhD; O'Callaghan, Finbar, MA, MB, MSc, PhD; Wheless, James, MD; Wu, Joyce, MD; Darling, Thomas N., MD, PhD; Cowen, Edward W., MD, MHSc; Gosnell, Elizabeth, DMD; Hebert, Adelaide, MD; Mlynarczyk, Greg, DDS; Soltani, Keyomaurs, MD; Teng, Joyce, MD, PhD; Wataya-Kaneda, Mari, MD, PhD; Witman, Patricia M., MD; Kingswood, Chris, MSc, FRCP; Bissler, John, MD; Budde, Klemens, MD; Hulbert, John, MD; Guay-Woodford, Lisa, MD; Sauter, Matthias, MD; Zonneberg, Bernard, MD, PhD; Jóźwiak, Sergiusz, MD, PhD; Bartels, Ute, MD, MSc; Berhouma, Moncef, MD; Franz, David Neal, MD; Koenig, Mary Kay, MD; Roach, E. Steve, MD; Roth, Jonathan, MD; Wang, Henry, MD, PhD; Weiner, Howard, MD; McCormack, Francis X., MD; Almoosa, Khalid, MD; Brody, Alan, MD; Burger, Charles, MD; Cottin, Vincent, MD; Finlay, Geraldine, MD; Glass, Jennifer, MS; Henske, Elizabeth Petri, MD; Johnson, Simon, MD; Kotloff, Robert, MD; Lynch, David, MD; Moss, Joel, MD, PhD; Smith, Karen, MLS; Rhu, Jay, MD; Da Silva, Angelo Taveira, MD, PhD; Young, Lisa R., MD; Knilans, Timothy, MD; Hinton, Robert, MD; Prakash, Ashwin, MD; Romp, Robb, MD; Singh, Arun D., MD; DebRoy, Ashish, MD; Chen, Pei-Lung, MD, PhD; Sparagana, Steven, MD; Frost, Michael D., MD
Pediatric Neurology. 49(4):255-265
Academic Journal
Northrup, Hope, MD; Krueger, Darcy A., MD PhD; Roberds, Steven, PhD; Smith, Katie; Sampson, Julian, DM, FRCP, FMedSci; Korf, Bruce, MD, PhD; Kwiatkowski, David J., MD PhD; Mowat, David, MD; Nellist, Mark, PhD; Povey, Sue, MD; de Vries, Petrus, MBChB, MRCPsych, PhD; Byars, Anna, PhD; Dunn, David, MD; Ess, Kevin, MD, PhD; Hook, Dena; Jansen, Anna, MD, PhD; King, Bryan, MD; Sahin, Mustafa, MD, PhD; Whittemore, Vicky, PhD; Thiele, Elizabeth, MD, PhD; Bebin, E. Martina, MD, MPA; Chugani, Harry T., MD; Crino, Peter, MD, PhD; Curatolo, Paolo, MD; Holmes, Greg, MD; Nabbout, Rima, MD, PhD; O'Callaghan, Finbar, MA, MB, MSc, PhD; Wheless, James, MD; Wu, Joyce, MD; Darling, Thomas N., MD, PhD; Cowen, Edward W., MD, MHSc; Gosnell, Elizabeth, DMD; Hebert, Adelaide, MD; Mlynarczyk, Greg, DDS; Soltani, Keyomaurs, MD; Teng, Joyce, MD, PhD; Wataya-Kaneda, Mari, MD, PhD; Witman, Patricia M., MD; Kingswood, Chris, MSc, FRCP; Bissler, John, MD; Budde, Klemens, MD; Hulbert, John, MD; Guay-Woodford, Lisa, MD; Sauter, Matthias, MD; Zonneberg, Bernard, MD, PhD; Jóźwiak, Sergiusz, MD, PhD; Bartels, Ute, MD, MSc; Berhouma, Moncef, MD; Franz, David Neal, MD; Koenig, Mary Kay, MD; Roach, E. Steve, MD; Roth, Jonathan, MD; Wang, Henry, MD, PhD; Weiner, Howard, MD; McCormack, Francis X., MD; Almoosa, Khalid, MD; Brody, Alan, MD; Burger, Charles, MD; Cottin, Vincent, MD; Finlay, Geraldine, MD; Glass, Jennifer, MS; Henske, Elizabeth Petri, MD; Johnson, Simon, MD; Kotloff, Robert, MD; Lynch, David, MD; Moss, Joel, MD, PhD; Smith, Karen, MLS; Rhu, Jay, MD; Da Silva, Angelo Taveira, MD, PhD; Young, Lisa R., MD; Knilans, Timothy, MD; Hinton, Robert, MD; Prakash, Ashwin, MD; Romp, Robb, MD; Singh, Arun D., MD; DebRoy, Ashish, MD; Chen, Pei-Lung, MD, PhD; Sparagana, Steven, MD; Frost, Michael D., MD
Pediatric Neurology. 49(4):243-254
Academic Journal
John J Bissler; J Chris Kingswood; Elzbieta Radzikowska; Bernard A Zonnenberg; Elena Belousova; Michael D Frost; Matthias Sauter; Susanne Brakemeier; Petrus J de Vries; Noah Berkowitz; Maurizio Voi; Severine Peyrard; Klemens Budde
PLoS ONE, Vol 12, Iss 8, p e0180939 (2017)
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