학술논문
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'학술논문'
에서 검색결과 33건 | 목록
1~20
Academic Journal
Marta Gil-Salvador; Laura Trujillano; Cristina Lucia-Campos; Julia Del Rincón; Pilar Pamplona; María Arnedo; Beatriz Puisac; Íñigo Marcos-Alcalde; Paulino Gómez-Puertas; Feliciano J. Ramos; Juan Pié; Ana Latorre-Pellicer
Scientific Reports, Vol 15, Iss 1, Pp 1-11 (2025)
Academic Journal
Ángela Ascaso; María Arnedo; Beatriz Puisac; Ana Latorre-Pellicer; Julia del Rincón; Gloria Bueno-Lozano; Juan Pié; Feliciano J. Ramos
Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp 352-362 (2024)
Academic Journal
Cristina Lucia-Campos; Ilaria Parenti; Ana Latorre-Pellicer; Marta Gil-Salvador; Ilaria Bestetti; Palma Finelli; Lidia Larizza; María Arnedo; Ariadna Ayerza-Casas; Julia Del Rincón; Laura Trujillano; Beatriz Morte; Luis A. Pérez-Jurado; Pablo Lapunzina; Elsa Leitão; Jasmin Beygo; Christina Lich; Fabian Kilpert; Sabine Kaya; Christel Depienne; Frank J. Kaiser; Feliciano J. Ramos; Beatriz Puisac; Juan Pié
Frontiers in Genetics, Vol 15 (2024)
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)
Academic Journal
Marta Gil-Salvador; Ana Latorre-Pellicer; Cristina Lucia-Campos; María Arnedo; María Teresa Darnaude; Aránzazu Díaz de Bustamante; Rebeca Villares; Carmen Palma Milla; Beatriz Puisac; Antonio Musio; Feliciano J. Ramos; Juan Pié
Frontiers in Genetics, Vol 13 (2022)
Academic Journal
Ana Latorre‐Pellicer; Ángela Ascaso; Cristina Lucia‐Campos; Marta Gil‐Salvador; María Arnedo; Rebeca Antoñanzas; Ariadna Ayerza‐Casas; Iñigo Marcos‐Alcalde; Paulino Gómez‐Puertas; Feliciano J. Ramos; Juan Pié; Beatriz Puisac
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Academic Journal
Ilaria Parenti; Farah Diab; Sara Ruiz Gil; Eskeatnaf Mulugeta; Valentina Casa; Riccardo Berutti; Rutger W.W. Brouwer; Valerie Dupé; Juliane Eckhold; Elisabeth Graf; Beatriz Puisac; Feliciano Ramos; Thomas Schwarzmayr; Macarena Moronta Gines; Thomas van Staveren; Wilfred F.J. van IJcken; Tim M. Strom; Juan Pié; Erwan Watrin; Frank J. Kaiser; Kerstin S. Wendt
Cell Reports, Vol 31, Iss 7, Pp - (2020)
Academic Journal
Íñigo Marcos-Alcalde; Jesús I. Mendieta-Moreno; Beatriz Puisac; María Concepción Gil-Rodríguez; María Hernández-Marcos; Diego Soler-Polo; Feliciano J. Ramos; José Ortega; Juan Pié; Jesús Mendieta; Paulino Gómez-Puertas
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Academic Journal
Stefan Bagheri-Fam; Huijun Chen; Sean Wilson; Katie Ayers; James Hughes; Frederique Sloan-Bena; Pierre Calvel; Gorjana Robevska; Beatriz Puisac; Kamila Kusz-Zamelczyk; Stefania Gimelli; Anna Spik; Jadwiga Jaruzelska; Alina Warenik-Szymankiewicz; Sultana Faradz; Serge Nef; Juan Pié; Paul Thomas; Andrew Sinclair; Dagmar Wilhelm
PLoS ONE, Vol 15, Iss 1, p e0227411 (2020)
Academic Journal
Ángel Matute-Llorente; Ángela Ascaso; Ana Latorre-Pellicer; Beatriz Puisac; Laura Trujillano; Elena Llorente; Juan José Puente-Lanzarote; Ariadna Ayerza-Casas; María Arnedo; Luis A. Moreno; Feliciano Ramos; Juan Pié; José A. Casajus; Gloria Bueno-Lozano
Applied Sciences, Vol 11, Iss 2, p 710 (2021)
Academic Journal
María Arnedo; Sebastián Menao; Beatriz Puisac; María E. Teresa-Rodrigo; María C. Gil-Rodríguez; Eduardo López-Viñas; Paulino Gómez-Puertas; Nuria Casals; César H. Casale; Fausto G. Hegardt; Juan Pié
Journal of Lipid Research, Vol 53, Iss 10, Pp 2046-2056 (2012)
Academic Journal
María Arnedo; David Ros-Pardo; Beatriz Puisac; Cristina Lucia-Campos; Marta Gil-Salvador; Ana Latorre-Pellicer; Íñigo Marcos-Alcalde; Juan Pié; Paulino Gómez-Puertas
Int J Mol Sci
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Academic Journal
Julia del Rincón; Marta Gil-Salvador; Cristina Lucia-Campos; Laura Acero; Laura Trujillano; María Arnedo; Pilar Pamplona; Ariadna Ayerza-Casas; Beatriz Puisac; Feliciano J. Ramos; Juan Pié; Ana Latorre-Pellicer
Int J Mol Sci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Universidad de Granada (UGR)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Universidad de Granada (UGR)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Academic Journal
Laura Trujillano; Ariadna Ayerza-Casas; Beatriz Puisac; Gonzalo González García; Ángela Ascaso; Ana Latorre-Pellicer; María Arnedo; Cristina Lucia-Campos; Marta Gil-Salvador; Frank J. Kaiser; Feliciano J. Ramos; Juan Pié; Gloria Bueno-Lozano
Int J Cardiovasc Imaging
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Academic Journal
Nina B. Gold; Dong Li; Anna Chassevent; Frank J. Kaiser; Ilaria Parenti; Tim M. Strom; Feliciano J. Ramos; Beatriz Puisac; Juan Pié; Kirsty McWalter; Maria J. Guillen Sacoto; Hong Cui; Reem Saadeh‐Haddad; Constance Smith‐Hicks; Lance Rodan; Edward Blair; Elizabeth Bhoj
Clin. Genet. 98, 571-576 (2020)
Academic Journal
Lianne C. Krab; Iñigo Marcos-Alcalde; Melissa Assaf; Meena Balasubramanian; Janne Bayer Andersen; Anne-Marie Bisgaard; David R. Fitzpatrick; Sanna Gudmundsson; Sylvia A. Huisman; Tugba Kalayci; Saskia M. Maas; Francisco Martinez; Shane McKee; Leonie A. Menke; Paul A. Mulder; Oliver D. Murch; Michael Parker; Juan Pie; Feliciano J. Ramos; Claudine Rieubland; Jill A. Rosenfeld Mokry; Emanuela Scarano; Marwan Shinawi; Paulino Gómez-Puertas; Zeynep Tümer; Raoul C. Hennekam
Hum Genet
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
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)
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
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)
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Academic Journal
Sylvia Huisman; Paul A. Mulder; Egbert Redeker; Ingrid Bader; Anne‐Marie Bisgaard; Alice Brooks; Anna Cereda; Constanza Cinca; Dinah Clark; Valerie Cormier‐Daire; Matthew A. Deardorff; Karin Diderich; Mariet Elting; Anthonie van Essen; David FitzPatrick; Cristina Gervasini; Gabriele Gillessen‐Kaesbach; Katta M. Girisha; Yvonne Hilhorst‐Hofstee; Saskia Hopman; Denise Horn; Mala Isrie; Sandra Jansen; Cathrine Jespersgaard; Frank J. Kaiser; Maninder Kaur; Tjitske Kleefstra; Ian D. Krantz; Phillis Lakeman; Annemiek Landlust; Davor Lessel; Caroline Michot; Jo Moss; Sarah E. Noon; Chris Oliver; Ilaria Parenti; Juan Pie; Feliciano J. Ramos; Claudine Rieubland; Silvia Russo; Angelo Selicorni; Zeynep Tümer; Rieneke Vorstenbosch; Tara L. Wenger; Ingrid van Balkom; Sigrid Piening; Jolanta Wierzba; Raoul C. Hennekam
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
instname
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, 'Phenotypes and genotypes in individuals with SMC1A variants', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125. https://doi.org/10.1002/ajmg.a.38279
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Universidad de Zaragoza
instname
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, 'Phenotypes and genotypes in individuals with SMC1A variants', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125. https://doi.org/10.1002/ajmg.a.38279
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Academic Journal
Ana Latorre-Pellicer; Laura Trujillano; Julia del Rincón; Mónica Peña-Marco; Marta Gil-Salvador; Cristina Lucia-Campos; María Arnedo; Beatriz Puisac; Feliciano J. Ramos; Ariadna Ayerza-Casas; Juan Pié
J Clin Med
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Journal of Clinical Medicine; Volume 12; Issue 12; Pages: 4052
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Journal of Clinical Medicine; Volume 12; Issue 12; Pages: 4052
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