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1دورية 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, Vol 45, Iss 1, Pp 465-478 (2023)
مصطلحات موضوعية: dominant optic atrophy, Kjer type, OPA1, mitochondrial neuropathies, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1467-3045/45/1/30Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test
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2دورية 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
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/21/15676Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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3دورية 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 -
4دورية 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
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5دورية 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; Volume 12; Issue 5; Pages: 707
مصطلحات موضوعية: PAX6, aniridia, congenital cataracts, nystagmus
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050707Test
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6دورية أكاديمية
المؤلفون: Celia Fernández-Alcalde, María Nieves-Moreno, Susana Noval, Jesús M. Peralta, Victoria E. F. Montaño, Ángela del Pozo, Fernando Santos-Simarro, Elena Vallespín
المصدر: Genes; Volume 12; Issue 4; Pages: 580
مصطلحات موضوعية: congenital cataracts, genetics, next-generation sequencing, ophthalmogenetics
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040580Test
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7دورية 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
العلاقة: https://doi.org/10.1186/s13059-021-02315-0Test; https://doaj.org/toc/1474-760XTest; https://doaj.org/article/c5365bb671514dddbb3d5b324f62ed28Test
الإتاحة: https://doi.org/10.1186/s13059-021-02315-0Test
https://doaj.org/article/c5365bb671514dddbb3d5b324f62ed28Test -
8دورية أكاديمية
المؤلفون: Wendell Jones, Binsheng Gong, Natalia Novoradovskaya, Dan Li, Rebecca Kusko, Todd A. Richmond, Donald J. Johann, Halil Bisgin, Sayed Mohammad Ebrahim Sahraeian, Pierre R. Bushel, Mehdi Pirooznia, Katherine Wilkins, Marco Chierici, Wenjun Bao, Lee Scott Basehore, Anne Bergstrom Lucas, Daniel Burgess, Daniel J. Butler, Simon Cawley, Chia-Jung Chang, Guangchun Chen, Tao Chen, Yun-Ching Chen, Daniel J. Craig, Angela del Pozo, Jonathan Foox, Margherita Francescatto, Yutao Fu, Cesare Furlanello, Kristina Giorda, Kira P. Grist, Meijian Guan, Yingyi Hao, Scott Happe, Gunjan Hariani, Nathan Haseley, Jeff Jasper, Giuseppe Jurman, David Philip Kreil, Paweł Łabaj, Kevin Lai, Jianying Li, Quan-Zhen Li, Yulong Li, Zhiguang Li, Zhichao Liu, Mario Solís López, Kelci Miclaus, Raymond Miller, Vinay K. Mittal, Marghoob Mohiyuddin, Carlos Pabón-Peña, Barbara L. Parsons, Fujun Qiu, Andreas Scherer, Tieliu Shi, Suzy Stiegelmeyer, Chen Suo, Nikola Tom, Dong Wang, Zhining Wen, Leihong Wu, Wenzhong Xiao, Chang Xu, Ying Yu, Jiyang Zhang, Yifan Zhang, Zhihong Zhang, Yuanting Zheng, Christopher E. Mason, James C. Willey, Weida Tong, Leming Shi, Joshua Xu
المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-38 (2021)
مصطلحات موضوعية: Biology (General), QH301-705.5, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s13059-021-02316-zTest; https://doaj.org/toc/1474-760XTest; https://doaj.org/article/7cb57d840cc4477294d87b6e0d997c1aTest
الإتاحة: https://doi.org/10.1186/s13059-021-02316-zTest
https://doaj.org/article/7cb57d840cc4477294d87b6e0d997c1aTest -
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المؤلفون: Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo
المصدر: American Journal of Medical Genetics Part A. 188:2819-2824
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c3acb808758b578b17f39fd98d2d207aTest
https://doi.org/10.1002/ajmg.a.62883Test -
10دورية أكاديمية
المؤلفون: Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 52-55 (2017)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426916301112Test; https://doaj.org/toc/2214-4269Test