학술논문
'학술논문'
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1~10
Academic Journal
Eap, CB; Grunder, G; Baumann, P; Ansermot, N; Conca, A; Corruble, E; Crettol, S; Dahl, ML; de Leon, J; Greiner, C; Howes, O; Kim, E; Lanzenberger, R; Meyer, JH; Moessner, R; Mulder, H; Muller, DJ; Reis, M; Riederer, P; Ruhe, HG; Spigset, O; Spina, E; Stegman, B; Steimer, W; Stingl, J; Suzen, S; Uchida, H; Unterecker, S; Vandenberghe, F; Hiemke, C
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry. 22(8):561-628
Academic Journal
van der Ende, EL; Meeter, LH; Stingl, C; van Rooij, JGJ; Stoop, MP; Nijholt, DAT; Sanchez-Valle, R; Graff, C; Oijerstedt, L; Grossman, M; McMillan, C; Pijnenburg, YAL; Laforce, R; Binetti, G; Benussi, L; Ghidoni, R; Luider, TM; Seelaar, H; van Swieten, JC
Annals of clinical and translational neurology. 6(4):698-707
Academic Journal
Swen, JJ; van der Wouden, CH; Manson, LEN; Abdullah-Koolmees, H; Blagec, K; Blagus, T; Bohringer, S; Cambon-Thomsen, A; Cecchin, E; Cheung, KC; Deneer, VHM; Dupui, M; Ingelman-Sundberg, M; Jonsson, S; Joefield-Roka, C; Just, KS; Karlsson, MO; Konta, L; Koopmann, R; Kriek, M; Lehr, T; Mitropoulou, C; Rial-Sebbag, E; Rollinson, V; Roncato, R; Samwald, M; Schaeffeler, E; Skokou, M; Schwab, M; Steinberger, D; Stingl, JC; Tremmel, R; Turner, RM; van Rhenen, MH; Fajardo, CLD; Dolzan, V; Patrinos, GP; Pirmohamed, M; Sunder-Plassmann, G; Toffoli, G; Guchelaar, HJ
Lancet (London, England). 401(10374):347-356
Academic Journal
Maheen F. Akhter, BS; Priscila C. Cevallos, MS; Kometh Thawanyarat, BA; Golddy M. Saldana, BS; Cybil S. Stingl, MD; Naomi A. Cole, MD; Christopher V. Lavin, MD; Abra H. Shen, MD; Rahim S. Nazerali, MD, MHS; Jeffrey B. Friedrich, MD
Plastic and Reconstructive Surgery, Global Open, Vol 12, Iss S3, Pp 16-17 (2024)
Academic Journal
Kelly Ugarelli; Justin E. Campbell; O. Kennedy Rhoades; Calvin J. Munson; Andrew H. Altieri; James G. Douglass; Kenneth L. Heck; Valerie J. Paul; Savanna C. Barry; Lindsey Christ; James W. Fourqurean; Thomas K. Frazer; Samantha T. Linhardt; Charles W. Martin; Ashley M. McDonald; Vivienne A. Main; Sarah A. Manuel; Candela Marco-Méndez; Laura K. Reynolds; Alex Rodriguez; Lucia M. Rodriguez Bravo; Yvonne Sawall; Khalil Smith; William L. Wied; Chang Jae Choi; Ulrich Stingl
Frontiers in Microbiology, Vol 15 (2024)
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balázs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne
Human Mutation. 43(7):832-858
Academic Journal
Iannaccone, Alessandro; Brewer, Carmen C; Cheng, Peiyao; Duncan, Jacque L; Maguire, Maureen G; Audo, Isabelle; Ayala, Allison R; Bernstein, Paul S; Bidelman, Gavin M; Cheetham, Janet K; Doty, Richard L; Durham, Todd A; Hufnagel, Robert B; Myers, Mark H; Stingl, Katarina; Zein, Wadih M; Group, Foundation Fighting Blindness Consortium Investigator
American Journal of Medical Genetics Part A. 185(12)
Academic Journal
Matthew A. Sherman; Hanna Kim; Katelyn Banschbach; Amanda Brown; Harry L. Gewanter; Bianca Lang; Megan Perron; Angela Byun Robinson; Jacob Spitznagle; Cory Stingl; Grant Syverson; Heather O. Tory; Charles H. Spencer; Stacey E. Tarvin
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-9 (2023)
Academic Journal
Buunk, Annemarie; Goossens, Hanneke; Baas, Gert; Algera, Maartje; Schuil-Vlassak, Evelyn; Ambagts, Thijs; De Hoog-Schouten, Leonie; Musaafir, Sara; Bosch, Roelof; Tjong, Carol; Steeman, Sanne; Van der Plas, Martine; Baldew, Glenn; Den Hollander, Iris; De Waal, Zacharias; Heijn, Aurele; Nelemans, Leen; Kouwen-Lubbers, Kirsten; Van Leeuwen, Maartje; Hoogenboom, Sacha; Van Doremalen, Jacobine; Ton, Célin; Beetstra, Bastien; Meijs, Veronique; Dikken, Jan; Dubero, Dasha; Slager, Mark; Houben, Tom; Kanis, Thomas; Overmars, Wietske; Nijenhuis, Marga; Steffens, Michael; Bergs, Ingmar; Karamperis, Kariofyllis; Siamoglou, Stavroula; Ivantsik, Ouliana; Samiou, Georgia-Chryssa; Kordou, Zoe; Tsermpini, Evira; Ferentinos, Panagiotis; Karaivazoglou, Aikaterini; Rigas, George; Gerasimou, Harilaos; Voukelatou, Georgia; Georgila, Eleni; Tsermpini, Evangelia Eirini; Mendrinou, Efrossyni; Chalikiopoulou, Konstantina; Kolliopoulou, Alexandra; Mitropoulos, Konstantinos; Stratopoulos, Apostolos; Liopetas, Ioannis; Tsikrika, Athina; Barba, Evangelia; Emmanouil, Georgia; Stamopoulou, Theano; Stathoulias, Andreas; Giannopoulos, Panagiotis; Kanellakis, Filippos; Bartsakoulia, Marina; Katsila, Theodora; Douzenis, Athanassios; Gourzis, Filippos; Assimakopoulos, Konstantinos; Bignucolo, Alessia; Dal Cin, Lisa; Comello, Francesco; Mezzalira, Silvia; Puglisi, Fabio; Spina, Michele; Foltran, Luisa; Guardascione, Michela; Buonadonna, Angela; Bartoletti, Michele; Corsetti, Serena; Ongaro, Elena; Da Ros, Lucia; Bolzonello, Silvia; Spazzapan, Simon; Freschi, Andrea; Di Nardo, Paola; Palazzari, Elisa; Navarria, Federico; Innocente, Roberto; Berretta, Massimiliano; D'Andrea, Mario; Angelini, Francesco; Diraimo, Tania; Favaretto, Adolfo; Dávila-Fajardo, Cristina Lucía; Díaz-Villamarín, Xando; Martínez-González, Luis Javier; Antúnez-Rodríguez, Alba; Moreno-Escobar, Eduardo; Fernández-Gómez, Ana Estefanía; García-Navas, Paloma; Bautista-Pavés, Alicia Bautista Pavés; Burillo-Gómez, Francisco; Villegas-Rodríguez, Inmaculada; Sánchez-Ramos, Jesús Gabriel; Antolinos-Pérez, Mª José; Rivera, Ricardo; Martínez-Huertas, Susana; Thomas-Carazo, Jesús; Yañez-Sanchez, Jose Julio; Blancas-López-Barajas, Mª Isabel; García-Orta, Rocío; González-Astorga, Beatriz; Rodríguez-González, Carlos José; Ruiz-Carazo, Francisco Javier; Pérez-Campos, Manuel; Cano-Herrera, Irene; Herrera, Rosa; Gil-Jiménez, Teresa; Delgado-Ureña, Mª Teresa; Triviño-Juarez, Jose Matías; Campos-Velázquez, Salustiano; Alcántara- Espadafor, Silvia; Moreno Aguilar, Maria Rosario; Ontiveros- Ortega, Maria Carmen; Carnerero-Córdoba, Lidia; Guerrero-Jiménez, Margarita; Legeren- Álvarez, Marta; Yélamos-Vargas, Marisol; Castillo-Pérez, Isabel; Aomar-Millán, Ismael; Anguita-Romero, Manuel; Sánchez-García, María José; Sequero-Lopez, Silvia; Faro-Miguez, Naya; López-Fernández, Silvia; Leyva-Ferrer, Rosario Nieves; Herrera-Gómez, Norberto; Pertejo-Manzano, Laura; Pérez-Gutierrez, Eva Mª; Martín-de la Higuera, Antonio J.; Plaza-Carrera, Jose; Baena-Garzón, Flor; Toledo-Frías, Pablo; Cruz-Valero, Inés; Chacón-McWeeny, Verónica; Gallardo- Sánchez, Isabel; Arrebola, Antonio; Guillén-Zafra, Lucía; Ceballos-Torres, Ángel; Guardia-Mancilla, Plácido; Guirao-Arrabal, Emilio; Canterero-Hinojosa, Jesús; Velasco-Fuentes, Sara; Sánchez- Cano, Daniel; Aguilar-Jaldo, Mª del Pilar; Caballero-Borrego, Juan; Praznik, Monika; Slapšak, Urška; Voncina, Blaz; Rajter, Branka; Škrinjar, Andrej; Marjetic Ulcakar, Angelika; Zidanšek, Anja; Stegne Ignjatvic, Tea; Mazej Poredoš, Barbara; Vivod Pecnik, Živka; Poplas Susic, Tonka; Juteršek, Milojka; Klen, Jasna; Skoporc, Janja; Kotar, Tjaša; Petek Šter, Marija; Zvezdana Dernovšk, Mojca; Mlinšek, Gregor; Miklavcic, Petra; Plemenitaš Ilješ, Anja; Grašic Kuhar, Cvetka; Oblak, Irena; Stražišar, Branka; Štrbac, Danijela; Matos, Erika; Mencinger, Marina; Vrbnjak, Marko; Saje, Marko; Radovanovic, Mirjana; Jeras, Katja; Bukovec, Lucija; Terzic, Tea; Minichmayr, Iris; Nanah, Abdulaziz; Nielsen, Elisabet; Zou, Yuanxi; Lauschke, Volker; Johansson, Inger; Zhou, Yitian; Nordling, Åsa; Aigner, Christof; Dames-Ludwig, Marlies; Monteforte, Rossella; Sunder-Plassmann, Raute; Steinhauser, Corinna; Sengoelge, Guerkan; Winnicki, Wolfgang; Schmidt, Alice; Vasileios, Fragoulakis; Fontana, Vanessa; Hanson, Anita; Little, Margaret; Hornby, Rachael; Dello Russo, Cinzia; French, Stephanie; Hampson, Jamie; Gumustekin, Mukaddes; Anyfantis, George; Hampson, Lucy; Lewis, David; Westhead, Ruth; Prince, Clare; Rajasingam, Arjunan; Swen, Jesse J; van der Wouden, Cathelijne H ; Manson, Lisanne EN ; Abdullah-Koolmees, Heshu; Blagec, Kathrin; Blagus, Tanja; Böhringer, Stefan; Cambon-Thomsen, Anne; Cecchin, Erika; Cheung, Ka-Chun; Deneer, Vera HM; Dupui, Mathilde; Ingelman-Sundberg, Magnus; Jonsson, Siv; Joefield-Roka, Candace; Just, Katja S; Karlsson, Mats O; Konta, Lidija; Koopmann, Rudolf; Kriek, Marjolein; Lehr, Thorsten; Mitropoulou, Christina; Rial-Sebbag, Emmanuelle; Rollinson, Victoria; Roncato, Rossana; Samwald, Matthias; Schaeffeler, Elke; Skokou, Maria; Schwab, Matthias; Steinberger, Daniela; Stingl, Julia C; Tremmel, Roman; Turner, Richard M; van Rhenen, Mandy H; Dávila Fajardo, Cristina L; Dolžan, Vita; Patrinos, George P; Pirmohamed, Munir; Sunder-Plassmann, Gere; Toffoli, Giuseppe; Guchelaar, Henk-Jan
In The Lancet 4-10 February 2023 401(10374):347-356
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Academic Journal
Neringa Jurkute; Francesca Cancellieri; Lisa Pohl; Catherina H. Z. Li; Robert A. Heaton; Janine Reurink; James Bellingham; Mathieu Quinodoz; Georgia Yioti; Maria Stefaniotou; Marianna Weener; Theresia Zuleger; Tobias B. Haack; Katarina Stingl; Genomics England Research Consortium; Carel B. Hoyng; Omar A. Mahroo; Iain Hargreaves; F. Lucy Raymond; Michel Michaelides; Carlo Rivolta; Susanne Kohl; Susanne Roosing; Andrew R. Webster; Gavin Arno
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
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