학술논문
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'학술논문'
에서 검색결과 443건 | 목록
1~20
Academic Journal
Moreno-Jiménez, Sara; Lopez-Cantillo, Gina; Arevalo-Romero, Jenny Andrea; Perdomo-Arciniegas, Ana María; Moreno-Gonzalez, Andrea Marisol; Devia-Mejia, Bellaneth; Camacho, Bernardo Armando; Gómez-Puertas, Paulino; Ramirez-Segura, Cesar A.
Molecular Medicine. 31(1)
Academic Journal
Gil-Salvador, Marta; Trujillano, Laura; Lucia-Campos, Cristina; Del Rincón, Julia; Pamplona, Pilar; Arnedo, María; Puisac, Beatriz; Marcos-Alcalde, Íñigo; Gómez-Puertas, Paulino; Ramos, Feliciano J.; Pié, Juan; Latorre-Pellicer, Ana
Scientific Reports. 15(1)
Academic Journal
Sara L. Bober; Qiuju Li; David Ros-Pardo; Trent Faultless; Íñigo Marcos-Alcalde; Paulino Gómez-Puertas; Michael H. Gollob
Circulation: Arrhythmia and Electrophysiology.
Academic Journal
Gverdtsiteli, Sopio; Hammer, Trine Bjørg; Hermann, Xenia; Andersen, Noemi Becser; Ros-Pardo, David; Marcos-Alcalde, Iñigo; Gómez-Puertas, Paulino; Brook, Alan Henry; Silahtaroglu, Asli; Tümer, Zeynep
Genes. October, 2025, Vol. 16 Issue 10
Academic Journal
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco
European Journal of Human Genetics. :1-8
Academic Journal
Arnedo, María; Ros-Pardo, David; Puisac, Beatriz; Lucia-Campos, Cristina; Gil-Salvador, Marta; Latorre-Pellicer, Ana; Marcos-Alcalde, Íñigo; Pié, Juan; Gómez-Puertas, Paulino
International Journal of Molecular Sciences. September, 2025, Vol. 26 Issue 17
Academic Journal
Bober, Sara L.; Li, Qiuju; Ros-Pardo, David; Faultless, Trent; Marcos-Alcalde, Íñigo; Gómez-Puertas, Paulino; Gollob, Michael H.
Circulation: Arrhythmia and Electrophysiology. Nov 01, 2025 18(11):e013899-e013899
Academic Journal
Mondaza-Hernandez, Jose L. ; Moura, David S. ; Li, Yi ; Marti, Jesus L. ; Gomez-Puertas, Paulino ; Nguyen, John T. ; Wei, Shuguang ; Posner, Bruce A. ; Meyer, Clark A. ; Bleris, Leonidas ; Martin-Broto, Javier ; Hayenga, Heather N.
In Neoplasia December 2025 70
Academic Journal
Aurora Campos-Díaz; Patricia Morejón-García; Eva Monte-Serrano; David Ros-Pardo; Iñigo Marcos-Alcalde; Paulino Gómez-Puertas; Pedro A. Lazo
J Mol Med (Berl)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Di Nardo, Maddalena; Sardina, Francesca; Pallotta, Maria M.; Marcos-Alcalde, Inigo; Gomez-Puertas, Paulino; Rinaldo, Cinzia; Krantz, Ian D.; Musio, Antonio
Academic Journal
Colomo, Sara; Ros-Pardo, David; Oltra, Sara S.; Gómez-Puertas, Paulino; Sarrió, David; Moreno-Bueno, Gema
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
In International Journal of Biological Macromolecules September 2024 276 Part 1
Academic Journal
Sara S. Oltra; Sara Colomo; Laura Sin; María Pérez-López; Sara Lázaro; Angela Molina-Crespo; Kyoung-Han Choi; David Ros-Pardo; Lidia Martínez; Saleta Morales; Cristina González-Paramos; Alba Orantes; Mario Soriano; Alberto Hernández; Ana Lluch; Federico Rojo; Joan Albanell; Paulino Gómez-Puertas; Jae-Kyun Ko; David Sarrió; Gema Moreno-Bueno
Cell Death Differ
CELL DEATH AND DIFFERENTIATION
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
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Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
CELL DEATH AND DIFFERENTIATION
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Academic Journal
Arévalo-Romero, Jenny Andrea; López-Cantillo, Gina; Moreno-Jiménez, Sara; Marcos-Alcalde, Íñigo; Ros-Pardo, David; Camacho, Bernardo Armando; Gómez-Puertas, Paulino; Ramírez-Segura, Cesar A.
International Journal of Molecular Sciences. October, 2024, Vol. 25 Issue 19
Academic Journal
Maria Bejerholm Christensen; Amanda M. Levy; Nazanin A. Mohammadi; Marcello Niceta; Rauan Kaiyrzhanov; Maria Lisa Dentici; Chadi Al Alam; Viola Alesi; Valérie Benoît; Kailash P. Bhatia; Tatjana Bierhals; Christian Malte Boßelmann; Julien Buratti; Bert Callewaert; Berten Ceulemans; Perrine Charles; Matthias De Wachter; Mohammadreza Dehghani; Erika D'haenens; Martine Doco‐Fenzy; Michaela Geßner; Cyrielle Gobert; Ulviyya Guliyeva; Tobias B. Haack; Trine Bjørg Hammer; T. Heinrich; Maja Hempel; Theresia Herget; Ute Hoffmann; Judit Horváth; Henry Houlden; Boris Keren; Christina Kresge; Candy Kumps; Damien Lederer; Alban Lermine; Francesca Magrinelli; Reza Maroofian; Mohammad Yahya Vahidi Mehrjardi; Mahdiyeh Moudi; Amelie J. Müller; Anna Oostra; Beth A. Pletcher; David Ros‐Pardo; Shanika Samarasekera; Marco Tartaglia; Kristof Van Schil; Julie Vogt; Evangeline Wassmer; Juliane Winkelmann; Maha S. Zaki; Michael Zech; Holger Lerche; Francesca Clementina Radio; Paulino Gómez‐Puertas; Rikke S. Møller; Zeynep Tümer
Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas , P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Academic Journal
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A.; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogné, Benjamin; Coubes, Christine; de Man, Stella A.; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Müller, Amelie J.; O’Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep
Genetics in medicine. 23(5):888-899
Academic Journal
International Journal of Molecular Sciences. January, 2024, Vol. 25 Issue 2
Academic Journal
Ana T. Marcos; Elena Martín‐Doncel; Patricia Morejón‐García; Iñigo Marcos‐Alcalde; Paulino Gómez‐Puertas; María Segura‐Puimedon; Lluis Armengol; José M. Navarro‐Pando; Pedro A. Lazo
Ann Clin Transl Neurol
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
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Digital.CSIC. Repositorio Institucional del CSIC
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 808-818 (2020)
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
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Digital.CSIC. Repositorio Institucional del CSIC
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 808-818 (2020)
Academic Journal
Ana Latorre-Pellicer; Marta Gil-Salvador; Ilaria Parenti; Cristina Lucia-Campos; Laura Trujillano; Iñigo Marcos-Alcalde; María Arnedo; Ángela Ascaso; Ariadna Ayerza-Casas; Rebeca Antoñanzas-Pérez; Cristina Gervasini; Maria Piccione; Milena Mariani; Axel Weber; Deniz Kanber; Alma Kuechler; Martin Munteanu; Katharina Khuller; Gloria Bueno-Lozano; Beatriz Puisac; Paulino Gómez-Puertas; Angelo Selicorni; Frank J. Kaiser; Feliciano J. Ramos; Juan Pié
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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