المؤلفون: Alisa M. Goldstein, PhD, Richard Qin, BS, Emily Y. Chu, MD, PhD, David E. Elder, MBChB, Daniela Massi, MD, PhD, David J. Adams, PhD, Paul W. Harms, MD, PhD, Carla Daniela Robles-Espinoza, PhD, Julia A. Newton-Bishop, MD, PhD, D. Timothy Bishop, PhD, Mark Harland, PhD, Elizabeth A. Holland, BSc, Anne E. Cust, PhD, Helen Schmid, MPH, Graham J. Mann, MBBS, PhD, Susana Puig, MD, PhD, Miriam Potrony, PhD, Llucia Alos, MD, PhD, Eduardo Nagore, MD, PhD, David Millán-Esteban, PhD, Nicholas K. Hayward, PhD, Natasa Broit, PhD, Jane M. Palmer, RN, Vaishnavi Nathan, PhD, Elizabeth G. Berry, MD, Esteban Astiazaran-Symonds, MD, Xiaohong R. Yang, PhD, Margaret A. Tucker, MD, Maria Teresa Landi, MD, PhD, Ruth M. Pfeiffer, PhD, Michael R. Sargen, MD

المصدر: JAAD International, Vol 11, Iss , Pp 43-51 (2023)

مصطلحات موضوعية: ACD, familial melanoma, melanoma, POT1, spitzoid melanoma, spitz melanoma, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666328723000147Test; https://doaj.org/toc/2666-3287Test

الوصول الحر: https://doaj.org/article/b6d3451b882d49dc952ed23a5da93142Test

المؤلفون: Andrea Elias-Mas, Miriam Potrony, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Teresa Torres, Tamara Barcos, Joan Anton Puig-Butille, Marta Rubio, Irene Madrigal, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga

المصدر: Frontiers in Aging Neuroscience, Vol 14 (2023)

مصطلحات موضوعية: FXTAS, AQP4, FMR1 premutation, genetic variation, glymphatic system, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnagi.2022.1073258/fullTest; https://doaj.org/toc/1663-4365Test

الوصول الحر: https://doaj.org/article/2c323e1e817240288503176d3c886aa5Test

المؤلفون: María Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal

المصدر: Genes, Vol 14, Iss 4, p 813 (2023)

مصطلحات موضوعية: neurological disorders, whole exome sequencing, neurodevelopmental disorders, autism spectrum disorder, Parkinson, epilepsy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/4/813Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/eabfbe524cc54f96a696f79119c5250aTest

المؤلفون: Miriam Potrony, Tariq Sami Haddad, Gemma Tell-Martí, Pol Gimenez-Xavier, Carlos Leon, Marta Pevida, Judit Mateu, Celia Badenas, Cristina Carrera, Josep Malvehy, Paula Aguilera, Sara Llames, Maria José Escámez, Joan A. Puig-Butillé, Marcela del Río, Susana Puig

المصدر: Frontiers in Medicine, Vol 8 (2021)

مصطلحات موضوعية: familial melanoma, genetics, transcriptome, skin, DNA repair, immune response, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2021.692341/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/a850c7da79184016a1d494670bb72606Test

المؤلفون: Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga

المصدر: Journal of Clinical Medicine, Vol 11, Iss 13, p 3570 (2022)

مصطلحات موضوعية: GLDN, arthrogryposis multiplex congenita, fetal akinesia deformation sequence, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/13/3570Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/f6d9868ffdaa49c59e217bbabb93d54fTest

المؤلفون: Francesco Spagnolo, Bruna Dalmasso, Enrica Tanda, Miriam Potrony, Susana Puig, Remco van Doorn, Ellen Kapiteijn, Paola Queirolo, Hildur Helgadottir, Paola Ghiorzo

المصدر: Cancers, Vol 13, Iss 10, p 2440 (2021)

مصطلحات موضوعية: melanoma, CDKN2A, targeted therapy, BRAF inhibitors, MEK inhibitors, genetic counseling, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/13/10/2440Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/3f7b0148dfa142de86bb67aae221cceaTest

المؤلفون: Johannes R. Björk, Laura A. Bolte, Andrew Maltez Thomas, Karla A. Lee, Niccolo Rossi, Thijs T. Wind, Lotte M. Smit, Federica Armanini, Francesco Asnicar, Aitor Blanco-Miguez, Ruth Board, Neus Calbet-Llopart, Lisa Derosa, Nathalie Dhomen, Kelly Brooks, Mark Harland, Mark Harries, Paul Lorigan, Paolo Manghi, Richard Marais, Julia Newton-Bishop, Luigi Nezi, Federica Pinto, Miriam Potrony, Susana Puig, Patricio Serra-Bellver, Heather M. Shaw, Sabrina Tamburini, Sara Valpione, Levi Waldron, Laurence Zitvogel, Moreno Zolfo, Elisabeth G. E. de Vries, Paul Nathan, Rudolf S. N. Fehrmann, Tim D. Spector, Véronique Bataille, Nicola Segata, Geke A. P. Hospers &, Rinse K. Weersma

المساهمون: Björk, Johannes R., Bolte, Laura A., Maltez Thomas, Andrew, Lee, Karla A., Rossi, Niccolo, Wind, Thijs T., Smit, Lotte M., Armanini, Federica, Asnicar, Francesco, Blanco-Miguez, Aitor, Board, Ruth, Calbet-Llopart, Neu, Derosa, Lisa, Dhomen, Nathalie, Brooks, Kelly, Harland, Mark, Harries, Mark, Lorigan, Paul, Manghi, Paolo, Marais, Richard, Newton-Bishop, Julia, Nezi, Luigi, Pinto, Federica, Potrony, Miriam, Puig, Susana, Serra-Bellver, Patricio, Shaw, Heather M., Tamburini, Sabrina, Valpione, Sara, Waldron, Levi, Zitvogel, Laurence, Zolfo, Moreno, de Vries, Elisabeth G. E., Nathan, Paul, Fehrmann, Rudolf S. N., Spector, Tim D., Bataille, Véronique, Segata, Nicola, Hospers &, Geke A. P., Weersma, Rinse K.

مصطلحات موضوعية: Settore BIO/19 - Microbiologia Generale

وصف الملف: ELETTRONICO

العلاقة: volume:Online ahead of print; journal:NATURE MEDICINE; https://hdl.handle.net/10278/5050202Test

الإتاحة: https://doi.org/10.1038/s41591-024-02803-3Test
https://hdl.handle.net/10278/5050202Test

المؤلفون: Courtney K Wallingford, Anastassia Demeshko, Asha Krishnankutty Krishnakripa, Darren J Smit, David L Duffy, Brigid Betz-Stablein, Annette Pflugfelder, Kasturee Jagirdar, Elizabeth Holland, Graham J Mann, Clare A Primiero, Tatiane Yanes, Josep Malvehy, Cèlia Badenas, Cristina Carrera, Paula Aguilera, Catherine M Olsen, Sarah V Ward, Nikolas K Haass, Richard A Sturm, Susana Puig, David C Whiteman, Matthew H Law, Anne E Cust, Miriam Potrony, H Peter Soyer, Aideen M McInerney-Leo

المصدر: British Journal of Dermatology. 188:770-776

مصطلحات موضوعية: Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3da7adb9aab03dc86db7f8c774c35ef1Test
https://doi.org/10.1093/bjd/ljad041Test

المؤلفون: Neus Calbet-Llopart, Marc Combalia, Anil Kiroglu, Miriam Potrony, Gemma Tell-Martí, Andrea Combalia, Albert Brugues, Sebastian Podlipnik, Cristina Carrera, Susana Puig, Josep Malvehy, Joan Anton Puig-Butillé

المصدر: The British journal of dermatologyReferences. 187(5)

مصطلحات موضوعية: Nevus, Pigmented, Skin Neoplasms, Genotype, Risk Factors, Humans, Female, Dermatology, Receptor, Melanocortin, Type 1, Melanoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132e777133678765175a0e858f43d256Test
https://pubmed.ncbi.nlm.nih.gov/35701387Test

المؤلفون: Adela Rodríguez Hernández, Benedetta Conte, Laia Fernández, Fara Brasó-Maristany, Belén Pastor, Miriam Potrony, Lorena Moreno, Elia Grau, Joan Antón Puig-Butillé, Aurora Sánchez, Blanca González-Farré, Esther Sanfeliu, Olga Martínez-Sáez, Claudette Falato, Maria Vidal, Nuria Chic, Tomás Pascual, Francesco Schettini, Montserrat Muñoz, Francesc Balaguer, Aleix Prat, Barbara Adamo

المصدر: Cancer Research. 83:P6-01

مصطلحات موضوعية: Cancer Research, Oncology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b9337223af5d4d7a1fdaac5db38f63eTest
https://doi.org/10.1158/1538-7445.sabcs22-p6-01-09Test