المؤلفون: Gemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez-Rovira, Teresa Ocaña, Maria Isabel Alvarez-Mora, Celia Badenas, Anna Esteve-Codina, Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maria Teresa Rodrigo, Sandra López-Prades, Miriam Cuatrecasas, Antoni Castells, Francesc Balaguer, Leticia Moreira, Guerau Fernandez, Sergi Castellví-Bel

المصدر: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-6 (2025)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/5d91e23c97b8422da27441f4f4caa663

المؤلفون: Noah Cornelis Helderman, Diantha Terlouw, Laia Bonjoch, Mariano Golubicki, Marina Antelo, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, Maartje Nielsen

المصدر: iScience, Vol 26, Iss 6, Pp 106737- (2023)

مصطلحات موضوعية: Cell biology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004223008143; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/f25f5262f80d4dabaa8cf237aa293eb6

المؤلفون: Gemma Llargués-Sistac, Laia Bonjoch, Sergi Castellvi-Bel

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: HAP1, CRISPR-cas9, genome-engineering, functional validation, haploidy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1111488/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/f1fdc130a68f410e85f8d548b109fb2a

المؤلفون: Laia Bonjoch, Yasmin Soares de Lima, Marcos Díaz-Gay, Isabella Dotti, Jenifer Muñoz, Leticia Moreira, Sabela Carballal, Teresa Ocaña, Miriam Cuatrecasas, Oswaldo Ortiz, Antoni Castells, Maria Pellisé, Francesc Balaguer, Azucena Salas, Ludmil B. Alexandrov, Sergi Castellví-Bel

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: serrated polyposis syndrome, POLD1, genetic predisposition to disease, gene editing, functional genomics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1119900/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/349b636d6eec4d70b45a16c39bd321da

المؤلفون: Mariano Golubicki, Laia Bonjoch, José G. Acuña-Ochoa, Marcos Díaz-Gay, Jenifer Muñoz, Miriam Cuatrecasas, Teresa Ocaña, Soledad Iseas, Guillermo Mendez, Daniel Cisterna, Stephanie A. Schubert, Maartje Nielsen, Tom van Wezel, Yael Goldberg, Eli Pikarsky, Juan Robbio, Enrique Roca, Antoni Castells, Francesc Balaguer, Marina Antelo, Sergi Castellví-Bel

المصدر: JCI Insight, Vol 5, Iss 18 (2020)

مصطلحات موضوعية: Gastroenterology, Genetics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/2fdf3af65883471e9f0dcc3c349717dc

المؤلفون: Enrique de-Madaria, Xavier Molero, Laia Bonjoch, Josefina Casas, Karina Cárdenas-Jaén, Andrea Montenegro, Daniel Closa

المصدر: Annals of Intensive Care, Vol 8, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Acute pancreatitis, Chlorohydrins, Inflammation, Fatty acids, SIRS, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13613-017-0346-6; https://doaj.org/toc/2110-5820

URL الوصول: https://doaj.org/article/f1ff5711ef8648c0b1070a8f46853875

المؤلفون: Laia Bonjoch, Meritxell Gironella, Juan Lucio Iovanna, Daniel Closa

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/18aa00ec6b494d09b82b1dba44412178

المؤلفون: Jose Gulfo, Angelo Ledda, Sabrina Gea-Sorlí, Laia Bonjoch, Daniel Closa, Mar Grasa, Montserrat Esteve

المصدر: PLoS ONE, Vol 11, Iss 1, p e0146497 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4704799?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c058064f5770434cab2b108b8d6b196e

المؤلفون: Sabrina Gea-Sorlí, Laia Bonjoch, Daniel Closa

المصدر: PLoS ONE, Vol 7, Iss 8, p e41933 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3411589?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c0f6a3b408744607b1cb7604e3c7f1ac

المؤلفون: Joan Llach, Irina Luzko, Julie Earl, Emma Barreto, Mercedes Rodríguez-Garrote, Marc Lleixà, Cristina Herrera-Pariente, Guerau Fernández, Jenifer Munoz, Laia Bonjoch, Tamara Saurí, Fabio Ausania, Teresa Ocaña, Lorena Moreno, Elia Grau, Josep Oriola, Maria Isabel Alvarez-Mora, Marta Herreros-Villanueva, Sergi Castellví-Bel, Francesc Balaguer, Luis Bujanda, Leticia Moreira

المصدر: Cancers ; Volume 16 ; Issue 22 ; Pages: 3779

مصطلحات موضوعية: pancreatic cancer, genetic testing, germline pathogenic variant

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers16223779

الاتاحة: https://doi.org/10.3390/cancers16223779

المؤلفون: Yasmin Soares de Lima, Coral Arnau-Collell, Marcos Díaz-Gay, Laia Bonjoch, Sebastià Franch-Expósito, Jenifer Muñoz, Leticia Moreira, Teresa Ocaña, Miriam Cuatrecasas, Cristina Herrera-Pariente, Sabela Carballal, Lorena Moreno, Aránzazu Díaz de Bustamante, Antoni Castells, Luis Bujanda, Joaquín Cubiella, Daniel Rodríguez-Alcalde, Francesc Balaguer, Sergi Castellví-Bel

المصدر: Cancers; Volume 13; Issue 4; Pages: 929

مصطلحات موضوعية: serrated polyposis syndrome, genetic predisposition to disease, colorectal cancer, whole-exome sequencing, mutational signatures

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers13040929

الاتاحة: https://doi.org/10.3390/cancers13040929

المؤلفون: Cristina Herrera-Pariente, Roser Capó-García, Marcos Díaz-Gay, Sabela Carballal, Jenifer Muñoz, Joan Llach, Ariadna Sánchez, Laia Bonjoch, Coral Arnau-Collell, Yasmin Soares de Lima, Mariano Golubicki, Gerhard Jung, Juan José Lozano, Antoni Castells, Francesc Balaguer, Luis Bujanda, Sergi Castellví-Bel, Leticia Moreira

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 3; Pages: 1310

مصطلحات موضوعية: gastric cancer, whole-exome sequencing, germline predisposition, early-onset, somatic profiling, next-generation sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22031310

الاتاحة: https://doi.org/10.3390/ijms22031310

المؤلفون: Mariano Golubicki, Marcos Díaz-Gay, Laia Bonjoch, Sebastià Franch-Expósito, Jenifer Muñoz, Miriam Cuatrecasas, Teresa Ocaña, Soledad Iseas, Guillermo Mendez, Marcela Carballido, Juan Robbio, Daniel Cisterna, Enrique Roca, Antoni Castells, Francesc Balaguer, Sergi Castellví-Bel, Marina Antelo

المصدر: Cancers, Vol 13, Iss 1259, p 1259 (2021)

مصطلحات موضوعية: colorectal cancer, biallelic somatic alteration, early-onset cancer, Lynch-like syndrome, mismatch repair, whole-exome sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/13/6/1259; https://doaj.org/toc/2072-6694; https://doaj.org/article/1aeba41723474dea914aec75addb2551

الاتاحة: https://doi.org/10.3390/cancers13061259
https://doaj.org/article/1aeba41723474dea914aec75addb2551

المؤلفون: Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel

المصدر: Journal of Medical Genetics, 60, 557-567
Journal of Medical Genetics, 60, 6, pp. 557-567

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5580c2f6bc5b5baae3c61e6fa2cd0069
https://doi.org/10.1136/jmg-2022-108684

المؤلفون: Juan L. Iovanna, Daniel Closa, Raul Urrutia, Gwen Lomberk, Pierre Dubus, Pierre Cordelier, Eduardo Chuluyan, Maria Inés Molejon, Sophie Lac, Maria Belen Lopez-Millan, Emma Folch-Puy, Laia Bonjoch, Celine Loncle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0b0c2d9c130a7e133e78d371fa96cb
https://doi.org/10.1158/0008-5472.c.6508137.v1

المؤلفون: Juan L. Iovanna, Daniel Closa, Raul Urrutia, Gwen Lomberk, Pierre Dubus, Pierre Cordelier, Eduardo Chuluyan, Maria Inés Molejon, Sophie Lac, Maria Belen Lopez-Millan, Emma Folch-Puy, Laia Bonjoch, Celine Loncle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fafbbfdcb1339511356f509d2ebcbbf
https://doi.org/10.1158/0008-5472.22411050.v1

المؤلفون: Juan L. Iovanna, Daniel Closa, Raul Urrutia, Gwen Lomberk, Pierre Dubus, Pierre Cordelier, Eduardo Chuluyan, Maria Inés Molejon, Sophie Lac, Maria Belen Lopez-Millan, Emma Folch-Puy, Laia Bonjoch, Celine Loncle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536eca98a749f0a6a5d8ced073caadd9
https://doi.org/10.1158/0008-5472.22411053.v1

المؤلفون: Laia Bonjoch, Ceres Fernandez-Rozadilla, Miriam Alvarez-Barona, Anael Lopez-Novo, Cristina Herrera-Pariente, Jorge Amigo, Luis Bujanda, David Remedios, Andrés Dacal, Joaquín Cubiella, Francesc Balaguer, Fernando Fernández-Bañares, Angel Carracedo, Rodrigo Jover, Sergi Castellvi-Bel, Clara Ruiz-Ponte

المصدر: Gastroenterology.

مصطلحات موضوعية: Hepatology, Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::26b427586e88fdebb5dbefb1b7cd093a
https://doi.org/10.1053/j.gastro.2023.03.006

المؤلفون: Marcos Díaz-Gay, Sebastià Franch-Expósito, Coral Arnau-Collell, Solip Park, Fran Supek, Jenifer Muñoz, Laia Bonjoch, Anna Gratacós-Mulleras, Paula Sánchez-Rojas, Clara Esteban-Jurado, Teresa Ocaña, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan Lozano, Genis Parra, Steve Laurie, Sergi Beltran, EPICOLON Consortium, Antoni Castells, Luis Bujanda, Joaquín Cubiella, Francesc Balaguer, Sergi Castellví-Bel

المصدر: Cancers; Volume 11; Issue 3; Pages: 362

مصطلحات موضوعية: colorectal cancer, whole-exome sequencing, predisposition to disease, germline–tumor analysis, mutational signatures, computational genomics

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cancers11030362

الاتاحة: https://doi.org/10.3390/cancers11030362

المؤلفون: Laia Bonjoch, Yasmin Soares de Lima, Marcos Díaz-Gay, Isabella Dotti, Jenifer Muñoz, Leticia Moreira, Sabela Carballal, Teresa Ocaña, Miriam Cuatrecasas, Oswaldo Ortiz, Antoni Castells, Maria Pellisé, Francesc Balaguer, Azucena Salas, Ludmil B. Alexandrov, Sergi Castellví-Bel

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, serrated polyposis syndrome, POLD1, genetic predisposition to disease, gene editing, functional genomics

Relation: https://figshare.com/articles/dataset/DataSheet1_Unraveling_the_impact_of_a_germline_heterozygous_POLD1_frameshift_variant_in_serrated_polyposis_syndrome_pdf/21940202

الاتاحة: https://doi.org/10.3389/fmolb.2023.1119900.s001
https://figshare.com/articles/dataset/DataSheet1_Unraveling_the_impact_of_a_germline_heterozygous_POLD1_frameshift_variant_in_serrated_polyposis_syndrome_pdf/21940202