학술논문
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'학술논문'
에서 검색결과 1,143건 | 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
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
Academic Journal
Menopause Review, Vol 24, Iss 3, Pp 199-205 (2025)
Academic Journal
Ullah, Mukhtar; Rehman, Atta Ur; Quinodoz, Mathieu; Rashid, Abdur; Cancellieri, Francesca; Munir, Asad; Kaminska, Karolina; Iqbal, Afia; Javed, Samra; Dawood, Muhammad; Baig, Hafiz Muhammad Azhar; Saleha, Shamim; Naz, Shagufta; Kausar, Humera; Waryah, Ali Muhammad; Superti-Furga, Andrea; Ansar, Muhammad; Rivolta, Carlo
npj Genomic Medicine. 10(1)
Academic Journal
Neiterman, Elena; MacEachen, Ellen; McKnight, Ekaterina; Crouch, Meghan Kathleen; Kaminska, Karolina; Malachowski, Cindy; Hopwood, Pam
Journal of Occupational Rehabilitation. March 2025, Vol. 35 Issue 1, p96, 9 p.
Academic Journal
Magdalena Ćwiklińska-Dworakowska; Karolina Marta Gacuta; Joanna Kamińska; Anna Justyna Milewska; Joanna Matowicka-Karna; Olga Martyna Koper-Lenkiewicz
Scientific Reports, Vol 15, Iss 1, Pp 1-11 (2025)
Academic Journal
Łukasz Galus; Daria Tusień Małecka; Michał Michalak; Sylwia Kopeć; Katarzyna Kozak; Karolina Piejko; Marcin Ziętek; Zbyszko Chowaniec; Bożena Cybulska Stopa; Robert Dziura; Justyna Żubrowska; Grażyna Kamińska Winciorek; Wiesław Bal; Piotr Rutkowski; Jacek Mackiewicz
Contemporary Oncology, Vol 29, Iss 2, Pp 165-170 (2025)
Academic Journal
Soc Psychiatry Psychiatr Epidemiol
Academic Journal
Malka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D’Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C; Place, Emily M; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Ansar, Muhammad; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J; Akram, Javed; Riazuddin; Ayuso, Carmen; Pierce, Eric A; Hardcastle, Alison J; Riazuddin, S Amer; Frazer, Kelly A; Hejtmancik, J Fielding; Rivolta, Carlo; Bujakowska, Kinga M; Arno, Gavin; Webster, Andrew R; Ayyagari, Radha
Am J Hum Genet
American journal of human genetics, vol. 111, no. 9, pp. 2012-2030
Malka, S, Biswas, P, Berry, A-M, Sangermano, R, Ullah, M, Lin, S, D'Antonio, M, Jestin, A, Jiao, X, Quinodoz, M, Sullivan, L, Gardner, J C, Place, E M, Michaelides, M,Kaminska , K, Mahroo, O A, Schiff, E, Wright, G, Cancellieri, F, Vaclavik, V, Santos, C, Rehman, A U, Mehrotra, S, Azhar Baig, H M, Iqbal, M, Ansar, M, Santos, L C, Sousa, A B, Tran, V H, Matsui, H, Bhatia, A, Naeem, M A, Akram, S J, Akram, J, Riazuddin, S, Ayuso, C, Pierce, E A, Hardcastle, A J, Riazuddin, S A, Frazer, K A, Hejtmancik, J F, Rivolta, C, Bujakowska, K M, Arno, G, Webster, A R & Ayyagari, R 2024, ' Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression ', American Journal of Human Genetics, vol. 111, no. 9, pp. 2012-2030 . https://doi.org/10.1016/j.ajhg.2024.07.020
American Journal of Human Genetics, vol 111, iss 9
American journal of human genetics, vol. 111, no. 9, pp. 2012-2030
Malka, S, Biswas, P, Berry, A-M, Sangermano, R, Ullah, M, Lin, S, D'Antonio, M, Jestin, A, Jiao, X, Quinodoz, M, Sullivan, L, Gardner, J C, Place, E M, Michaelides, M,
American Journal of Human Genetics, vol 111, iss 9
Academic Journal
Rivolta, Carlo ; Celik, Elifnaz ; Kamdar, Dhryata ; Cancellieri, Francesca ; Kaminska, Karolina ; Ullah, Mukhtar ; Barberán-Martínez, Pilar ; Bouckaert, Manon ; Cortón, Marta ; Delanote, Emma ; Fernández-Caballero, Lidia ; García García, Gema ; Holtes, Lara K. ; Karali, Marianthi ; Lopez, Irma ; Peter, Virginie G. ; Schneider, Nina ; Vincke, Lieselot ; Ayuso, Carmen ; Banfi, Sandro ; Bocquet, Beatrice ; Coppieters, Frauke ; Cremers, Frans P.M. ; Inglehearn, Chris F. ; Iwata, Takeshi ; Kalatzis, Vasiliki ; Koenekoop, Robert K. ; Millán, José M. ; Sharon, Dror ; Toomes, Carmel ; Quinodoz, Mathieu
In The American Journal of Human Genetics 2 October 2025 112(10):2253-2265
Academic Journal
Karali, Marianthi; García-García, Gema; Kaminska, Karolina; AlTalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik PN; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M.
European Journal of Human Genetics. :1-11
Academic Journal
Prétot, Dominique; della Volpe Waizel, Maria; Kaminska, Karolina; Valmaggia, Philippe; Placidi, Giorgio; Falsini, Benedetto; Fries, Fabian N.; Szentmáry, Nóra; Rivolta, Carlo; Scholl, Hendrik P. N.; Calzetti, Giacomo
Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology. :1-7
Academic Journal
Andrea Zanetti; Gwendal Dujardin; Lucas Fares-Taie; Jeanne Amiel; Jérôme E. Roger; Isabelle Audo; Matthieu P. Robert; Pierre David; Vincent Jung; Nicolas Goudin; Ida Chiara Guerrera; Stéphanie Moriceau; Danielle Amana; Nurit Assia Batzir; Anat Bachar-Zipori; Lina Basel Salmon; Nathalie Boddaert; Sylvain Briault; Ange-Line Bruel; Christine Costet-Fighiera; Luisa Coutinho Santos; Cyril Gitiaux; Karolina Kaminska; Paul Kuentz; Naama Orenstein; Nicole Philip-Sarles; Morgane Plutino; Mathieu Quinodoz; Cristina Santos; Sabine Sigaudy; Mariana Soeiro e Sá; Efrat Sofrin; Ana Berta Sousa; Rui Sousa-Luis; Christel Thauvin-Robinet; Erwin L. van Dijk; Khaoula Zaafrane-Khachnaoui; Dinah Zur; Josseline Kaplan; Carlo Rivolta; Jean-Michel Rozet; Isabelle Perrault
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Calzetti, Giacomo; Schwarzwälder, Kerstin; Ottonelli, Giorgia; Kaminska, Karolina; Strauss, Rupert Wolfgang; Baere, Elfride De; Leroy, Bart P.
Ophthalmic Research. January, 2024, Vol. 67 Issue 1, p448, 10 p.
Academic Journal
Stepniak, Karolina; Machnicka, Magdalena A.; Mieczkowski, Jakub; Macioszek, Anna; Wojtas, Bartosz; Gielniewski, Bartlomiej; Poleszak, Katarzyna; Perycz, Malgorzata; Król, Sylwia K.; Guzik, Rafal; Dabrowski, Michal J.; Draminski, Michal; Jardanowska, Marta; Grabowicz, Ilona; Dziedzic, Agata; Kranas, Hanna; Sienkiewicz, Karolina; Diamanti, Klev, 1987; Kotulska, Katarzyna; Grajkowska, Wieslawa; Roszkowski, Marcin; Czernicki, Tomasz; Marchel, Andrzej; Komorowski, Jan; Kaminska, Bozena; Wilczynski, Bartek
Nature Communications. 12(1)
Academic Journal
Mular, Andrzej ; Piasta, Karolina ; Jedyńczuk, Aleksandra ; Kamińska, Karolina ; Olshvang, Evgenia ; Nolte, Nils Metzler ; Wojaczyńska, Elżbieta ; Kozłowski, Henryk ; Gumienna-Kontecka, Elżbieta
In Coordination Chemistry Reviews 15 February 2024 501
Academic Journal
Aleksandra Żmuda; Weronika Kamińska; Marta Bartel; Karolina Głowacka; Maciej Chotkowski; Katarzyna Medyńska; Katarzyna Wiktorska; Maciej Mazur
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Academic Journal
Małgorzata Frąk; Anna Grenda; Paweł Krawczyk; Barbara Kuźnar-Kamińska; Paweł Pazdrowski; Karolina Kędra; Izabela Chmielewska; Janusz Milanowski
BMC Cancer, Vol 24, Iss 1, Pp 1-14 (2024)
Academic Journal
Alicja Kamińska; Laura Pardyak; Sylwia Lustofin; Karolina Gielata; Zbigniew Arent; Agnieszka Pietsch-Fulbiszewska; Anna Hejmej
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-16 (2024)
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[검색어] Kaminska, Karolina
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