학술논문
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'학술논문'
에서 검색결과 293건 | 목록
1~20
Academic Journal
Olofsson, Sara; Löfvendahl, Sofia; Widén, Julia; Rudebeck, Mattias; Lindgren, Peter; Stepien, Karolina M.; Arnoux, Jean Baptiste; Luz Couce Pico, Maria; Leão Teles, Elisa; Jacobson, Lena
Journal of Medical Economics. 27(1):1146-1156
Academic Journal
Burton, Barbara K. ; Harmatz, Paul R. ; Horvathova, Veronika ; Lail, Alice ; Lampe, Christina ; Parini, Rossella ; Sharma, Reena ; Teles, Elisa Leão
In Molecular Genetics and Metabolism July 2025 145(3)
Academic Journal
Olofsson, Sara; Löfvendahl, Sofia; Widén, Julia; Jacobson, Lena; Lindgren, Peter; Stepien, Karolina M.; Arnoux, Jean‐Baptiste; Pico, Maria Luz Couce; Teles, Elisa Leão; Rudebeck, Mattias
JIMD Reports. November, 2024, Vol. 65 Issue 6, p450, 11 p.
Academic Journal
Augusto Magalhães; Margarida Ribeiro; Jorge Meira; Ana Filipa Moleiro; Esmeralda Rodrigues; Elisa Leão-Teles
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 642-647 (2024)
Academic Journal
Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia
In Genetics in Medicine June 2023 25(6)
Academic Journal
Mcnutt, Markey; Rutsch, Frank; Russo, Rossana Sanchez; Gasperini, Serena; Batzios, Spyros; Teles, Elisa Leao; Brassier, Anais; Ganesh, Jaya; Schulze, Andreas; Enns, Gregory M.; Rudebeck, Mattias
Academic Journal
Augusto Monteiro Magalhães; Ana Filipa Moleiro; Esmeralda Rodrigues; Sérgio Castro; José Fonseca; Elisa Leão‐Teles
JIMD Reports, Vol 64, Iss 2, Pp 129-137 (2023)
Academic Journal
Catarina Maria Almeida; Esmeralda Rodrigues; Teresa Almeida Campos; Laura Vilarinho; Elisa Leão Teles
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)
Academic Journal
Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Quelhas, Dulce ; Martins, Esmeralda ; Azevedo, Luísa ; Bandeira, Anabela ; Diogo, Luísa ; Garcia, Paula ; Sequeira, Sílvia ; Ferreira, Ana Cristina ; Teles, Elisa Leão ; Rodrigues, Esmeralda ; Fortuna, Ana Maria ; Mendonça, Carla ; Fernandes, Helena Cabral ; Medeira, Ana ; Gaspar, Ana ; Janeiro, Patrícia ; Oliveira, Anabela ; Laranjeira, Francisco ; Ribeiro, Isaura ; Souche, Erica ; Race, Valérie ; Keldermans, Liesbeth ; Matthijs, Gert ; Jaeken, Jaak
In The Journal of Pediatrics April 2021 231:148-156
Academic Journal
Magalhães, Augusto; Vilares-Morgado, Rodrigo; Cunha, Ana Maria; Leão-Teles, Elisa; Falcão, Manuel; Carneiro, Ângela; Falcão-Reis, Fernando
Case Reports in Ophthalmology. September, 2021, Vol. 12 Issue 3, p816, 8 p.
Academic Journal
Markey McNutt; George Diaz; Andreas Schulze; Gillian Bubb; Leslie Sloan; Elisa Leão-Teles; Spyros Batzios; Angela Sun; Allison Bannick; Roberto Zori; Gregory Enns
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100009- (2023)
Academic Journal
Matthew P. Wilson; Dulce Quelhas; Elisa Leão‐Teles; Luisa Sturiale; Daisy Rymen; Liesbeth Keldermans; Valérie Race; Erika Souche; Esmeralda Rodrigues; Teresa Campos; Emile Van Schaftingen; François Foulquier; Domenico Garozzo; Gert Matthijs; Jaak Jaeken
JIMD Reports, Vol 58, Iss 1, Pp 122-128 (2021)
Academic Journal
Lampe, Christina ; Harmatz, Paul R. ; Parini, Rossella ; Sharma, Reena ; Teles, Elisa Leão ; Johnson, Julie ; Sivam, Debbie ; Sisic, Zlatko
In Molecular Genetics and Metabolism August 2019 127(4):355-360
Academic Journal
Lopes, Nuno; Maia, Maria L.; Pereira, Cátia S.; Mondragão-Rodrigues, Inês; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patrício; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leão-Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F.; Alves, Sandra; Macedo, M. Fátima
Biomedicines. June, 2023, Vol. 11 Issue 6
Academic Journal
Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter; Berry, Susan A; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A; Gallagher, Renata C; Gropman, Andrea; Harding, Cary O; Lee, Brendan; Le Mons, Cynthia; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; WeisfeldAdams, James; Wong, Derek; Yudkoff, Marc; Arnoux, JeanBaptiste; Barić, Ivo; Bosch, Annet M; Chabrol, Brigitte; Chakrapani, Anupam; CortèsSaladefont, Elisenda; Couce, Maria L; Eyskens, Francois; Laet, Corine; Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grünewald, Stephanie; Häberle, Johannes; Hwu, WuhLiang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M; Martinelli, Diego; Murphy, Elaine; Mühlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; SykutCegielska, Jolanta; Walter, John H; Williams, Monique; Zeman, Jiri
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P,Teles , E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, 'Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106. https://doi.org/10.1002/jimd.12031
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P,
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
Academic Journal
Susana Silva; Alicia Renedo; Cláudia de Freitas; Mariana Amorim; Helena Machado; Elisa Leão Teles; Maria João Baptista; Veerle Provoost
BMJ Open, Vol 11, Iss 3 (2021)
Academic Journal
Magalhães, Augusto; Cunha, Ana Maria; Vilares-Morgado, Rodrigo; Leão-Teles, Elisa; Rodrigues, Esmeralda; Falcão, Manuel; Carneiro, Ângela
Case Reports in Ophthalmological Medicine. April 12, 2021, Vol. 2021
Academic Journal
Marisa Encarnação; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Inês Santos; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H. Futerman; Laura Vilarinho; Sandra Alves
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Academic Journal
Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; Additional individual contributors of the E-IMD consortium; Sokal, Etienne
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, Vol. 39, no.5, p. 661-672 (2016)
Journal of inherited metabolic disease
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, Vol. 39, no.5, p. 661-672 (2016)
Journal of inherited metabolic disease
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[검색어] Teles, Elisa Leão
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