학술논문
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'학술논문'
에서 검색결과 1,778건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology. 263(10):2747-2761
Academic Journal
Emerging Infectious Diseases, Vol 25, Iss 1, Pp 197-197 (2019)
Academic Journal
Wolfram, Lasse; Merle, David A.; Kühlewein, Laura; Reith, Milda; Kempf, Melanie; Stingl, Krunoslav; Haack, Tobias; Mazzola, Pascale; Poths, Karin; Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina
BMC Ophthalmology. 25(1)
Academic Journal
Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E.
npj Genomic Medicine. 10(1)
Academic Journal
Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P.N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American journal of human genetics, vol. 112, no. 4, pp. 808-828
Kaminska, K, Cancellieri, F, Quinodoz, M, Moye, A R, Bauwens, M, Lin, S, Janeschitz-Kriegl, L, Hayman, T, Barberán-Martínez, P, Schlaeger, R, Van den Broeck, F, Ávila Fernández, A, Fernández-Caballero, L, Perea-Romero, I, García-García, G, Salom, D, Mazzola, P, Zuleger, T, Poths, K, Haack, T B, Jacob, J, Vermeer, S, Terbeek, F, Feltgen, N, Moulin, A P, Koutroumanou, L, Papadakis, G, Browning, A C, Madhusudhan, S, Gränse, L, Banin, E, Sousa, A B, Coutinho Santos, L, Kuehlewein, L, De Angeli, P, Leroy, B P, Mahroo, O A, Sedgwick, F, Eden, J, Pfau, M, Andréasson, S, Scholl, H P N, Ayuso, C, Millán, J M, Sharon, D, Tsilimbaris, M K, Vaclavik, V, Tran, H V, Ben-Yosef, T, De Baere, E, Webster, A R, Arno, G, Sergouniotis, P I,Kohl , S, Santos, C & Rivolta, C 2025, 'Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.015
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American journal of human genetics, vol. 112, no. 4, pp. 808-828
Kaminska, K, Cancellieri, F, Quinodoz, M, Moye, A R, Bauwens, M, Lin, S, Janeschitz-Kriegl, L, Hayman, T, Barberán-Martínez, P, Schlaeger, R, Van den Broeck, F, Ávila Fernández, A, Fernández-Caballero, L, Perea-Romero, I, García-García, G, Salom, D, Mazzola, P, Zuleger, T, Poths, K, Haack, T B, Jacob, J, Vermeer, S, Terbeek, F, Feltgen, N, Moulin, A P, Koutroumanou, L, Papadakis, G, Browning, A C, Madhusudhan, S, Gränse, L, Banin, E, Sousa, A B, Coutinho Santos, L, Kuehlewein, L, De Angeli, P, Leroy, B P, Mahroo, O A, Sedgwick, F, Eden, J, Pfau, M, Andréasson, S, Scholl, H P N, Ayuso, C, Millán, J M, Sharon, D, Tsilimbaris, M K, Vaclavik, V, Tran, H V, Ben-Yosef, T, De Baere, E, Webster, A R, Arno, G, Sergouniotis, P I,
Academic Journal
Georgiou, Michalis; Fujinami, Kaoru; Fujinami-Yokokawa, Yu; Nasser, Fadi; Gale, Michael J.; Ayuso, Carmen; Mahroo, Omar A.; Pontikos, Nikolas; Bouzia, Zaina; Jimenez-Rolando, Belen; Carreño, Ester; Baraas, Rigmor C.; Holtan, Josephine P.; Bragadottir, Ragnheidur; Thiadens, Alberta A.H.J.; Pechhacker, Monika G.; Vincent, Ajoy; Héon, Elise; Altalbishi, Alaa; Maldonado, Ramiro S.; Neidhardt, John; Kousal, Bohdan; Lišková, Petra; Bertelsen, Mette; Larsen, Lars M.; Pennesi, Mark E.; Kohl, Susanne; Wissinger, Bernd; Zrenner, Eberhart; Webster, Andrew R.; Michaelides, Michel
American Journal of Ophthalmology. 278:73-80
Academic Journal
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
Susanne Reinhold; Christian Herr; Yiwen Yao; Mehdi Pourrostami; Felix Ritzmann; Thorsten Lehr; Dominik Selzer; Yvonne Kohl; Daniela Yildiz; Hortense Slevogt; Christoph Beisswenger; Robert Bals
Scientific Reports, Vol 15, Iss 1, Pp 1-12 (2025)
Academic Journal
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Solve-RD consortium; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Aleksandra Vujović; Franz Schaefer; Anne-Laure Sellier-Leclerc; Mattia Parolin; Víctor Pérez-Beltrán; Jonas Hofstetter; Olivia Boyer; Maria Cristina Mancuso; Sandra Habbig; Tanja Kersnik Levart; Klaus Arbeiter; Fabian Eibensteiner; Lovro Lamot; Justine Bacchetta; Lisa Condamine; Dounia Habchi; Lydia Slimani; Amina Talhi; Sacha Flammier; Marc Fila; Julie Tenenbaum; Laurence Heidet; Kahina Saidoun; Nabila Moussaoui; Stefan Kohl; Susanne Schaefer; Jose Antonio Ramirez Garcia; Marcus Weitz; Kathrin Buder; Lena Lechler; Matko Marlais; Orsolya Horváth; Giovanni Montini; Francesco Trepiccione; Miriam Zacchia; Germana Longo; Nicola Bertazza Partigiani; Antonio Gargiulo; Chiara Bettini; Vitor Hugo Martins; Aleksandra Zurowska; Magdalena Drozynska-Duklas; Anna Krakowska; Joaquim Calado; Rute Baeta Baptista; Ana Teixeira; Anca Marin; Valentin Mocanu; Andreja Aleš Rigler; Tomaž Šimnovec; Carla Soto; Romy Bouwmeester; Eiske Dorresteijn
Kidney International Reports, Vol 11, Iss 2, Pp 103700- (2026)
Academic Journal
Journal of Ophthalmology. September 7, 2025, Vol. 2025
Academic Journal
Birte Staude; Silvia Gschwendtner; Tina Frodermann; Frank Oehmke; Thomas Kohl; Susanne Walch; Michael Schloter; Harald Ehrhardt
BMC Medicine, Vol 23, Iss 1, Pp 1-15 (2025)
Academic Journal
Kathrin Gödde; Hella Fügemann; Ulrike Grittner; Raphael Kohl; Andreas Meisel; Thomas Reinhold; Nina Rieckmann; Susanne Schnitzer; P. Markus Deckert; Nikolaj Frost; Christian H. Nolte; Stephan J. Schreiber; Ute Goerling; Christine Holmberg
BMC Health Services Research, Vol 25, Iss 1, Pp 1-13 (2025)
Academic Journal
Iris Hordijk; Lourens Poorter; Jingjing Liang; Peter B. Reich; Sergio de-Miguel; Gert-Jan Nabuurs; Javier G. P. Gamarra; Han Y. H. Chen; Mo Zhou; Susan K. Wiser; Hans Pretzsch; Alain Paquette; Nicolas Picard; Bruno Hérault; Jean-Francois Bastin; Giorgio Alberti; Meinrad Abegg; Yves C. Adou Yao; Angelica M. Almeyda Zambrano; Braulio V. Alvarado; Esteban Alvarez-Davila; Patricia Alvarez-Loayza; Luciana F. Alves; Iêda Amaral; Christian Ammer; Clara Antón-Fernández; Alejandro Araujo-Murakami; Luzmila Arroyo; Valerio Avitabile; Gerardo A. Aymard C; Timothy Baker; Olaf Banki; Jorcely Barroso; Meredith L. Bastian; Luca Birigazzi; Philippe Birnbaum; Robert Bitariho; Pascal Boeckx; Frans Bongers; Olivier Bouriaud; Pedro H. S. Brancalion; Susanne Brandl; Francis Q. Brearley; Roel Brienen; Eben N. Broadbent; Helge Bruelheide; Roberto Cazzolla Gatti; Ricardo G. Cesar; Goran Cesljar; Robin L. Chazdon; Chelsea Chisholm; Emil Cienciala; Connie J. Clark; David B. Clark; Gabriel Colletta; David Coomes; Fernando Cornejo Valverde; Jose J. Corral-Rivas; Philip Crim; Jonathan Cumming; Selvadurai Dayanandan; André L. de Gasper; Mathieu Decuyper; Géraldine Derroire; Ben DeVries; Ilija Djordjevic; Aurélie Dourdain; Jiri Dolezal; Nestor Laurier Engone Obiang; Brian Enquist; Teresa Eyre; Adandé Belarmain Fandohan; Tom M. Fayle; Leandro V. Ferreira; Ted R. Feldpausch; Leena Finér; Markus Fischer; Christine Fletcher; Lorenzo Frizzera; Damiano Gianelle; Henry B. Glick; David Harris; Andrew Hector; Andreas Hemp; John Herbohn; Annika Hillers; Eurídice N. Honorio Coronado; Cang Hui; Hyunkook Cho; Thomas Ibanez; Ilbin Jung; Nobuo Imai; Andrzej M. Jagodzinski; Bogdan Jaroszewicz; Vivian Johannsen; Carlos A. Joly; Tommaso Jucker; Viktor Karminov; Kuswata Kartawinata; Elizabeth Kearsley; David Kenfack; Deborah Kennard; Sebastian Kepfer-Rojas; Gunnar Keppel; Mohammed Latif Khan; Timothy Killeen; Hyun Seok Kim; Kanehiro Kitayama; Michael Köhl; Henn Korjus; Florian Kraxner; Diana Laarmann; Mait Lang; Simon Lewis; Huicui Lu; Natalia Lukina; Brian Maitner; Yadvinder Malhi; Eric Marcon; Beatriz Schwantes Marimon; Ben Hur Marimon-Junior; Andrew Robert Marshall; Emanuel Martin; Olga Martynenko; Jorge A. Meave; Omar Melo-Cruz; Casimiro Mendoza; Cory Merow; Stanislaw Miscicki; Abel Monteagudo Mendoza; Vanessa Moreno; Sharif A. Mukul; Philip Mundhenk; Maria G. Nava-Miranda; David Neill; Victor Neldner; Radovan Nevenic; Michael Ngugi; Pascal A. Niklaus; Jacek Oleksyn; Petr Ontikov; Edgar Ortiz-Malavasi; Yude Pan; Alexander Parada-Gutierrez; Elena Parfenova; Minjee Park; Marc Parren; Narayanaswamy Parthasarathy; Pablo L. Peri; Sebastian Pfautsch; Oliver L. Phillips; Maria Teresa Piedade; Daniel Piotto; Nigel C. A. Pitman; Martina Pollastrini; Irina Polo; Axel Dalberg Poulsen; John R. Poulsen; Freddy Ramirez Arevalo; Zorayda Restrepo-Correa; Mirco Rodeghiero; Samir Rolim; Anand Roopsind; Francesco Rovero; Ervan Rutishauser; Purabi Saikia; Christian Salas-Eljatib; Peter Schall; Dmitry Schepaschenko; Michael Scherer-Lorenzen; Bernhard Schmid; Jochen Schöngart; Eric B. Searle; Vladimír Seben; Federico Selvi; Josep M. Serra-Diaz; Douglas Sheil; Anatoly Shvidenko; Javier Silva-Espejo; Marcos Silveira; James Singh; Plinio Sist; Ferry Slik; Bonaventure Sonké; Alexandre F. Souza; Hans ter Steege; Krzysztof Stereńczak; Jens-Christian Svenning; Miroslav Svoboda; Ben Swanepoel; Natalia Targhetta; Nadja Tchebakova; Raquel Thomas; Elena Tikhonova; Peter Umunay; Vladimir Usoltsev; Renato Valencia; Fernando Valladares; Fons van der Plas; Tran Van Do; Michael E. Van Nuland; Rodolfo Vasquez Martinez; Hans Verbeeck; Helder Viana; Alexander C. Vibrans; Simone Vieira; Klaus von Gadow; Hua-Feng Wang; James Watson; Gijsbert D. A. Werner; Florian Wittmann; Verginia Wortel; Roderick Zagt; Tomasz Zawila-Niedzwiecki; Chunyu Zhang; Xiuhai Zhao; Zhi-Xin Zhu; Irie Casimir Zo-Bi; Daniel S. Maynard; Thomas W. Crowther
Nature Communications, Vol 16, Iss 1, Pp 1-15 (2025)
Academic Journal
Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur V.; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias I.; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Hélène; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Català; Kellner, Ulrich; Rüther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne
Proceedings of the National Academy of Sciences of the United States of America, 2022 Jul 01. 119(27), 1-10.
Academic Journal
Vulto-van Silfhout, Anneke T. ; Jazet, Ingrid M. ; Yzer, Suzanne ; Pas, Jeroen ; Demirdas, Serwet ; van Rossum, Elisabeth F.C. ; Thiadens, Alberta A.H.J. ; van Beek, Ronald ; Haer-Wigman, Lonneke ; Barge-Schaapveld, Daniela Q.C.M. ; Brasch-Andersen, Charlotte ; Frost, Simon ; Bauwens, Miriam ; De Baere, Elfride ; Balikova, Irina ; Van den Broeck, Filip ; Weisz-Hubshman, Monika ; Joset, Pascal ; Miny, Peter ; Filges, Isabel ; Kohl, Susanne ; De Angeli, Pietro ; Kühlewein, Laura ; Bodenbender, Jan-Philipp ; Haack, Tobias ; Poths, Karin ; Fernandez-Caballero, Lidia ; Corton, Marta ; Blanco Kelly, Fiona ; Ayuso, Carmen ; Martínez-Esteban, Peggy ; Vissing, John ; Díaz-Manera, Jordi ; Straub, Volker ; Töpf, Ana ; Lin, Siying ; Arno, Gavin ; Macken, William L. ; Spillane, Jennifer ; Ramachandran, Radha ; de Vrieze, Erik ; van Ham, Tjakko ; Roosing, Susanne ; Oud, Machteld M.
In Genetics in Medicine June 2025
Academic Journal
De Angeli, Pietro ; Spaag, Salome ; Shliaga, Stefanida ; Flores-Tufiño, Arturo ; Ritter, Malte ; Nasri, Masoud ; Stingl, Katarina ; Kühlewein, Laura ; Wissinger, Bernd ; Kohl, Susanne
In Molecular Therapy - Nucleic Acids 10 June 2025 36(2)
Academic Journal
BODENBENDER, JAN-PHILIPP; BETHGE, LEON; STINGL, KATARINA; MAZZOLA, PASCALE; HAACK, TOBIAS; BISKUP, SASKIA; WISSINGER, BERND; WEISSCHUH, NICOLE; KOHL, SUSANNE; KÜHLEWEIN, LAURA
American Journal of Ophthalmology. 267:213-229
Academic Journal
In Genetics in Medicine December 2023 25(12)
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