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1دورية أكاديمية
المؤلفون: Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu
المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-23 (2021)
مصطلحات موضوعية: Oncopanel sequencing, Target enrichment, Molecular diagnostics, Reproducibility, Analytical performance, Precision medicine, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1474-760XTest
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2دورية أكاديمية
المؤلفون: Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
مصطلحات موضوعية: Telomere, Dyskeratosis congenita, Pulmonary fibrosis, Aplastic anemia, DNA repair, Telomeropathies, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1046-0Test; https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin
المصدر: Genes, Vol 12, Iss 5, p 707 (2021)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval
المصدر: Current Issues in Molecular Biology; Volume 45; Issue 1; Pages: 465-478
مصطلحات موضوعية: dominant optic atrophy, Kjer type, OPA1, mitochondrial neuropathies
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Biochemistry, Molecular and Cellular Biology; https://dx.doi.org/10.3390/cimb45010030Test
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5دورية أكاديمية
المؤلفون: Carmen González-Atienza, Eloísa Sánchez-Cazorla, Natalia Villoldo-Fernández, Almudena del Hierro, Ana Boto, Marta Guerrero-Carretero, María Nieves-Moreno, Natalia Arruti, Patricia Rodríguez-Solana, Rocío Mena, Carmen Rodríguez-Jiménez, Irene Rosa-Pérez, Juan Carlos Acal, Joana Blasco, Marta Naranjo-Castresana, Beatriz Ruz-Caracuel, Victoria E. F. Montaño, Cristina Ortega Patrón, M. Esther Rubio-Martín, Laura García-Fernández, Emi Rikeros-Orozco, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespín
المصدر: Genes, Vol 14, Iss 10, p 1838 (2023)
مصطلحات موضوعية: non-syndromic pediatric keratoconus, whole-exome sequencing, ophthalmogenetics, Genetics, QH426-470
العلاقة: https://www.mdpi.com/2073-4425/14/10/1838Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/7df6c07b27f046a9a86f33212e81a43fTest
الإتاحة: https://doi.org/10.3390/genes14101838Test
https://doaj.org/article/7df6c07b27f046a9a86f33212e81a43fTest -
6دورية أكاديميةWhole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
المؤلفون: Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno, Rocío Mena, Carmen Rodríguez-Jiménez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesús M. Peralta, Ángela Del Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Celia Fernández-Alcalde, Carmen González-Atienza, Eloísa Sánchez-Cazorla, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespín
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11429 (2023)
مصطلحات موضوعية: non-syndromic pediatric cataracts, bilateral cataracts, lenses, whole exome sequencing, ophthalmogenetics, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/24/14/11429Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17Test
الإتاحة: https://doi.org/10.3390/ijms241411429Test
https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17Test -
7دورية أكاديمية
المؤلفون: Eloísa Sánchez-Cazorla, Carmen González-Atienza, Ana López-Vázquez, Natalia Arruti, María Nieves-Moreno, Susana Noval, Rocío Mena, Carmen Rodríguez-Jiménez, Patricia Rodríguez-Solana, Eva González-Iglesias, Marta Guerrero-Carretero, Oriana D’Anna Mardero, Javier Coca-Robinot, Juan Carlos Acal, Joana Blasco, Carlos Castañeda, Jesús Fraile Maya, Ángela Del Pozo, María V. Gómez-Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Carlos Rodríguez-Antolín, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Elena Vallespín
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15676 (2023)
مصطلحات موضوعية: early-onset high myopia, whole-exome sequencing, ophthalmogenetics, polygenic inheritance, candidate genes, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/24/21/15676Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219Test
الإتاحة: https://doi.org/10.3390/ijms242115676Test
https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219Test -
8مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test -
9دورية أكاديمية
المؤلفون: Eva Fernández-Gutiérrez, Pedro Fernández-Pérez, Ana Boto-De-Los-Bueis, Laura García-Fernández, Patricia Rodríguez-Solana, Mario Solís, Elena Vallespín
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 1; Pages: 209
مصطلحات موضوعية: posterior polymorphous corneal dystrophy, keratoconus, iridocorneal endothelial syndrome, ZEB1, confocal microscopy
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24010209Test
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10دورية أكاديمية
المؤلفون: Eva González-Iglesias, Ana López-Vázquez, Susana Noval, María Nieves-Moreno, María Granados-Fernández, Natalia Arruti, Irene Rosa-Pérez, Marta Pacio-Míguez, Victoria E. F. Montaño, Patricia Rodríguez-Solana, Angela del Pozo, Fernando Santos-Simarro, Elena Vallespín
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4233
مصطلحات موضوعية: early-onset high myopia, next-generation sequencing, ophthalmogenetics
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23084233Test