المؤلفون: Manigbas, Celine A., Jadhav, Bharati, Garg, Paras, Shadrina, Mariya, Lee, William, Altman, Gabrielle, Martin-Trujillo, Alejandro, Sharp, Andrew J.

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute on Aging, U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development, U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-024-54678-0
https://www.nature.com/articles/s41467-024-54678-0.pdf
https://www.nature.com/articles/s41467-024-54678-0

المؤلفون: Ibanez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A

المصدر: Nature Medicine, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301591; https://eprints.ncl.ac.uk/fulltext.aspx?url=301591/C6B2191A-36B7-4465-A720-CA39D47BC208.pdf&pub_id=301591

الاتاحة: https://eprints.ncl.ac.uk/301591

المؤلفون: Ibanez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott, Galassi Deforie, Valentina, Dalmia, Anupriya, Hensman Moss, Davina J, Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey, EUROSCA network, Fratta, Pietro, Langbehn, Douglas, Tabrizi, Sarah, Caulfield, Mark, Cortese, Andrea, Escott-Price, Valentina, hardy, John, Houlden, Henry, Sharp, Andrew, Tucci, Arianna

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/170838/6/s41591-024-03190-5.pdf; Ibanez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott, Galassi Deforie, Valentina, Dalmia, Anupriya, Hensman Moss, Davina J, Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey, EUROSCA network, Fratta, Pietro, Langbehn, Douglas, Tabrizi, Sarah, Caulfield, Mark, Cortese, Andrea, Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.html orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483, hardy, John, Houlden, Henry, Sharp, Andrew and Tucci, Arianna 2024. Increased frequency of repeat expansion mutations across different populations. Nature Medicine 10.1038/s41591-024-03190-5 https://doi.org/10.1038/s41591-024-03190-5 file https://orca.cardiff.ac.uk/id/eprint/170838/6/s41591-024-03190-5.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/170838/
https://doi.org/10.1038/s41591-024-03190-5

المؤلفون: Juan Jose Valenzuela Fuenzalida, Karla Vera-Tapia, Camila Urzúa-Márquez, Javiera Yáñez-Castillo, Martín Trujillo-Riveros, Zmilovan Koscina, Mathias Orellana-Donoso, Pablo Nova-Baeza, Alejandra Suazo-Santibañez, Juan Sanchis-Gimeno, Alejandro Bruna-Mejias, Héctor Gutiérrez Espinoza

المصدر: Journal of Clinical Medicine, Vol 13, Iss 13, p 3689 (2024)

مصطلحات موضوعية: renal vein, kidney failure, variations renal veins, vascularization kidney, variation anatomical, kidney surgery, Medicine

Relation: https://www.mdpi.com/2077-0383/13/13/3689; https://doaj.org/toc/2077-0383; https://doaj.org/article/a64182e877964bf7b370586065c08ad9

الاتاحة: https://doi.org/10.3390/jcm13133689
https://doaj.org/article/a64182e877964bf7b370586065c08ad9

المؤلفون: Ramos-García Vanesa, Perestelo-Pérez Lilisbeth, Rivero-Santana Amado, Peñate Castro Wenceslao, Duarte-Díaz Andrea, Álvarez-Pérez Yolanda, Martín-Trujillo María del Mar, Del Cura-González María Isabel, Serrano-Aguilar Pedro

المصدر: BMC Medical Informatics and Decision Making, Vol 22, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Generalized anxiety disorder, Practice guideline, Patient decision aid, Acceptability, Shared decision-making, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6947

URL الوصول: https://doaj.org/article/8194d38f18c24add8d0b746b785f034b

المؤلفون: Juan José Valenzuela-Fuenzalida, Kora-lle Keller Navarro, Pia Urbina, Martin Trujillo-Riveros, Pablo Nova-Baeza, Mathias Orellana-Donoso, Macarena Rodriguez-Luengo, Alvaro Beccerra Farfan, Juan A. Sanchis-Gimeno

المصدر: Diagnostics, Vol 13, Iss 3282, p 3282 (2023)

مصطلحات موضوعية: anatomy mandibular condyle, variation mandibular condyle, bifid mandibular condyle, trifid mandibular condyle, anatomical variation, clinical anatomy, Medicine (General), R5-920

Relation: https://www.mdpi.com/2075-4418/13/20/3282; https://doaj.org/toc/2075-4418; https://doaj.org/article/4390a0aa2c4f421cb2c9f585449cae4a

الاتاحة: https://doi.org/10.3390/diagnostics13203282
https://doaj.org/article/4390a0aa2c4f421cb2c9f585449cae4a

المؤلفون: Ibañez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott J, Deforie, Valentina Galassi, Dalmia, Anupriya, Hensman Moss, Davina J, Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey D, Fratta, Pietro, Langbehn, Douglas R, Tabrizi, Sarah J, Caulfield, Mark J, Cortese, Andrea, Escott-Price, Valentina, Hardy, John, Houlden, Henry, Sharp, Andrew J, Tucci, Arianna

المصدر: G: Genetic testing and counselling ; page A118-A120

الاتاحة: http://dx.doi.org/10.1136/jnnp-2024-ehdn.230
https://syndication.highwire.org/content/doi/10.1136/jnnp-2024-EHDN.230

المؤلفون: Garg, Paras, Jadhav, Bharati, Lee, William, Rodriguez, Oscar L., Martin-Trujillo, Alejandro, Sharp, Andrew J.

المساهمون: National Institutes of Health, National Heart, Lung, and Blood Institute, Icahn School of Medicine at Mount Sinai

المصدر: The American Journal of Human Genetics ; volume 109, issue 6, page 1065-1076 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.04.016
https://api.elsevier.com/content/article/PII:S0002929722001641?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722001641?httpAccept=text/plain

المؤلفون: Pérez-Rodríguez, Sonia, de la Caridad Rodríguez-González, Meiby, Ochoa-Azze, Rolando, Climent-Ruiz, Yanet, Alberto González-Delgado, Carlos, Paredes-Moreno, Beatriz, Valenzuela-Silva, Carmen, Rodríguez-Noda, Laura, Perez-Nicado, Rocmira, González-Mugica, Raúl, Martínez-Pérez, Marisel, Sánchez-Ramírez, Belinda, Hernández-García, Tays, Díaz-Machado, Alina, Tamayo-Rodríguez, Maura, Martín-Trujillo, Alis, Rubino-Moreno, Jorman, Suárez-Batista, Anamary, Dubed-Echevarría, Marta, Teresa Pérez-Guevara, María, Amoroto-Roig, Mayté, Chappi-Estévez, Yanet, Bergado-Báez, Gretchen, Pi-Estopiñán, Franciscary, Chen, Guang-Wu, Valdés-Balbín, Yury, García-Rivera, Dagmar, Verez-Bencomo, Vicente

المصدر: Vaccine ; volume 40, issue 13, page 2068-2075 ; ISSN 0264-410X

الاتاحة: http://dx.doi.org/10.1016/j.vaccine.2022.02.029
https://api.elsevier.com/content/article/PII:S0264410X2200161X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0264410X2200161X?httpAccept=text/plain

المؤلفون: Martín Trujillo, Sara

Thesis Advisors: Serrano-Sánchez, José A., Sanchis-Moysi, Joaquín, Ara, Ignacio

مصطلحات موضوعية: 241106 Fisiología del ejercicio

URL الوصول: http://hdl.handle.net/10553/9810

المؤلفون: Bautista Ochoa, Varinia, Farzaneh Peña, Diana, González Lozano, Lucía, Herrera Polo, Gabriel, Marín Muñoz, Inmaculada, Martín Moreno, Inés, Martín Trujillo, Sandra, Sánchez Burgos, María, Téllez Muñoz, Antonio

المصدر: International Journal of New Education; Núm. 5 (2020) ; 2605-1931 ; 10.24310/IJNE3.1.2020

وصف الملف: application/pdf; text/html

Relation: https://revistas.uma.es/index.php/NEIJ/article/view/9518/9485; https://revistas.uma.es/index.php/NEIJ/article/view/9518/9486; https://revistas.uma.es/index.php/NEIJ/article/view/9518

الاتاحة: https://revistas.uma.es/index.php/NEIJ/article/view/9518
https://doi.org/10.24310/IJNE3.1.2020.9518

المؤلفون: Garg, Paras, Martin-Trujillo, Alejandro, Rodriguez, Oscar L., Gies, Scott J., Hadelia, Elina, Jadhav, Bharati, Jain, Miten, Paten, Benedict, Sharp, Andrew J.

المساهمون: NIH, American Heart Association Inc

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 809-824 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.03.016
https://api.elsevier.com/content/article/PII:S0002929721001002?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721001002?httpAccept=text/plain

المؤلفون: Orestes Santos-Morales, Alina Díaz-Machado, Daise Jiménez-Rodríguez, Yaisel Pomares-Iturralde, Tatiana Festary-Casanovas, Carlos A. González-Delgado, Sonia Pérez-Rodríguez, Eulalia Alfonso-Muñoz, Carmen Viada-González, Patricia Piedra-Sierra, Idrian García-García, Daniel Amaro-González, for the NeuroEPO Study Group, Julio César García-Rodríguez, Iliana Sosa-Testé, Alicia Lagarto-Parra, Laura Barrero-Viera, Marlene David-Baldo, Maura Tamayo-Rodríguez, Ivonne Rivero-Vázquez, Gricel González-Gamiz, Alis Martín-Trujillo, Yasmila Rodríguez-Fernández, Ana Alfa Ledo-de la Luz, Maylén Álvarez-Delgado, Ivón Howland-Álvarez, Yolanda Cruz-Gómez

المصدر: BMC Neurology, Vol 17, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Non-hematopoietic recombinant erythropoietin, NeuroEPO, Stroke, Neurodegenerative diseases, Healthy volunteers, Safety, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-017-0908-0; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/e517e2c5af464c38a783b22d08a467d6

المؤلفون: Garg, Paras, Jadhav, Bharati, Rodriguez, Oscar L., Patel, Nihir, Martin-Trujillo, Alejandro, Jain, Miten, Metsu, Sofie, Olsen, Hugh, Paten, Benedict, Ritz, Beate, Kooy, Frank, Gecz, Jozef, Sharp, Andrew J.

المصدر: 0002-9297 ; The American journal of human genetics

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000577135400007

الاتاحة: https://hdl.handle.net/10067/1726890151162165141
https://repository.uantwerpen.be/docstore/d:irua:3514

المؤلفون: Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp

المصدر: PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)

مصطلحات موضوعية: Genetics, QH426-470

Relation: https://doi.org/10.1371/journal.pgen.1009189; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/7a65eca1218d4480a5e676161b9f759c

الاتاحة: https://doi.org/10.1371/journal.pgen.1009189
https://doaj.org/article/7a65eca1218d4480a5e676161b9f759c

المؤلفون: Barbosa, Mafalda, Joshi, Ricky S., Garg, Paras, Martin-Trujillo, Alejandro, Patel, Nihir, Jadhav, Bharati, Watson, Corey T., Gibson, William, Chetnik, Kelsey, Tessereau, Chloe, Mei, Hui, De Rubeis, Silvia, Reichert, Jennifer, Lopes, Fátima Daniela Teixeira, Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Grice, Dorothy E., Edelmann, Lisa, Soares, Gabriela, Maciel, P., Brunner, Han G., Buxbaum, Joseph D., Gelb, Bruce D., Sharp, Andrew J.

مصطلحات موضوعية: Adolescent, Adult, Case-Control Studies, Child, Preschool, Cohort Studies, Congenital Abnormalities, DNA Methylation, Datasets as Topic, Epigenomics, Genome, Human, Humans, Infant, Newborn, Loss of Function Mutation, Male, Middle Aged, Neurodevelopmental Disorders, Sequence Analysis, DNA, RNA, Young Adult, Epigenesis, Genetic, Science & Technology

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBDINT%2F51549%2F2011/PT; PIC/IC/83026/2007; PIC/IC/83013/2007; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F90167%2F2012/PT; http://hdl.handle.net/1822/57785

الاتاحة: http://hdl.handle.net/1822/57785
https://doi.org/10.1038/s41467-018-04540-x

المؤلفون: A. Rochtus, A. Martin Trujillo, B. Izzi, I. Garin, A. Linglart, G. Perez de Nanclares, S. Thiele, B. Decallonne, C. Van Geet, D. Monk, K. Freson, F. Elli, G. Mantovani

المساهمون: A. Rochtu, A. Martin Trujillo, B. Izzi, F. Elli, I. Garin, A. Linglart, G. Mantovani, G. Perez de Nanclare, S. Thiele, B. Decallonne, C. Van Geet, D. Monk, K. Freson

مصطلحات موضوعية: DNA methylation, GNAS, imprinting disorder, pseudohypoparathyroidism, case-control studie, GTP-Binding Protein alpha Subunits, Genome-Wide Association Study, genomic imprinting, human, oligonucleotide array sequence analysi, genetic, molecular biology, developmental biology, genetics (clinical), Settore MED/13 - Endocrinologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/26819647; info:eu-repo/semantics/altIdentifier/wos/WOS:000368765500001; volume:8; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:CLINICAL EPIGENETICS; http://hdl.handle.net/2434/456291; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84956609255

الاتاحة: http://hdl.handle.net/2434/456291
https://doi.org/10.1186/s13148-016-0175-8

المؤلفون: Luis Martín Trujillo-Flórez, Juan Gabriel Murillo

المصدر: Catálogo editorial. :9-23

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9d65f623ff02eacc6224abb72e77d8a6
https://doi.org/10.15765/poli.v1i710.1941

المؤلفون: Luis Martín Trujillo-Flórez

المصدر: Catálogo editorial. :1-7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6008a43b501a20aaf76d807304e56dab
https://doi.org/10.15765/poli.v1i710.1940

المؤلفون: Luis Martín Trujillo-Flórez, Juan Carlos Rojas-Paredes

المصدر: Catálogo editorial. :89-111

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0239f367093818b9fcacca8e09cb08f5
https://doi.org/10.15765/poli.v1i774.1912