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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: Olga Pernía, Ana Sastre-Perona, Carlos Rodriguez-Antolín, Alvaro García-Guede, María Palomares-Bralo, Rocío Rosas, Darío Sanchez-Cabrero, Patricia Cruz, Carmen Rodriguez, MDolores Diestro, Rubén Martín-Arenas, Verónica Pulido, Pilar Santisteban, Javier de Castro, Olga Vera, Inmaculada Ibáñez de Cáceres
المصدر: Cancers, Vol 12, Iss 4, p 786 (2020)
مصطلحات موضوعية: itf2-tcf4, chemotherapy resistance, nsclc, hoxd9, wnt pathway, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
المصدر: PLoS ONE, Vol 12, Iss 2, p e0172363 (2017)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5322952?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Romina Armando, Julián Nevado, Vanesa Lotersztein, Cinthia Martínez, María Ángeles Mori, Sandra Rozental, María Palomares, Lucía D. Espeche, Rubén Martín Arenas, Pablo Lapunzina, Myriam Perez, Andrea Solari, Mabel Segovia, Liliana Dain
المصدر: Molecular Biology Reports. 47:6863-6878
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, business.industry, Public health, General Medicine, medicine.disease, Subtelomere, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurodevelopmental disorder, 030220 oncology & carcinogenesis, Cohort, Intellectual disability, Genetics, Etiology, Medicine, Multiplex ligation-dependent probe amplification, Copy-number variation, business, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2feeac95fe13a592211483837d6ab631Test
https://doi.org/10.1007/s11033-020-05743-6Test -
5دورية أكاديمية
المؤلفون: Leila Cabral de Almeida Cardoso, Lara Rodriguez-Laguna, María Del Carmen Crespo, Elena Vallespín, María Palomares-Bralo, Rubén Martin-Arenas, Inmaculada Rueda-Arenas, Paulo Antonio Silvestre de Faria, GT-CSGP Working Group, Purificación García-Miguel, Pablo Lapunzina, Fernando Regla Vargas, Hector N Seuanez, Víctor Martínez-Glez
المصدر: PLoS ONE, Vol 10, Iss 8, p e0136812 (2015)
العلاقة: http://europepmc.org/articles/PMC4552764?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/d5f78e64bad84958bd1dde6c74ae53c5Test
الإتاحة: https://doi.org/10.1371/journal.pone.0136812Test
https://doaj.org/article/d5f78e64bad84958bd1dde6c74ae53c5Test -
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المؤلفون: Elena Vallespín, Gloria Oliva-Molina, Ana Bustamante, Victor Martinez-Glez, Michael T. Dellinger, Isabel Colmenero, Rebeca Rodríguez Pena, Kristina Ibáñez, Carmen Ayuso, Cristina Villaverde, Noelia Agra, Rubén Martín-Arenas, Devon Hominick, Noor Khurana, Lara Rodriguez-Laguna, Pablo Lapunzina, María J. Beato, Juan Carlos López-Gutiérrez, Angela del Pozo, Gema Gordo, Gonzalo Herranz, Juan M. Torres Canizalez
المصدر: Journal of Experimental Medicine. 216:407-418
مصطلحات موضوعية: 0301 basic medicine, Mutation, business.industry, Somatic cell, Immunology, nutritional and metabolic diseases, Disease, Hyperplasia, medicine.disease_cause, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Lymphatic system, Vascular Disorder, Etiology, Cancer research, Immunology and Allergy, Medicine, Missense mutation, lipids (amino acids, peptides, and proteins), business, neoplasms, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94f598cddd6cb5a6a3b7b7bb97372c89Test
https://doi.org/10.1084/jem.20181353Test -
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المؤلفون: Elena Vallespín, Ana Belén Enguita Valls, Pablo Lapunzina, Marta Ortega, Luis García-Guereta, Laura Casamayor Polo, Elena Ruiz-Bravo, Sixto García-Miñaúr, Patricia Muñoz-Cabello, María Bravo García-Morato, Lara Rodriguez-Laguna, Luis Fernández, María Palomares-Bralo, Rubén Martín-Arenas, Kristina Ibáñez, Angela del Pozo
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, Cardiomyopathy, Danon disease, medicine.disease, business, Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7fb174461530e9b0eaa76afa30c01ef3Test
https://doi.org/10.1111/cge.13884/v2/response1Test -
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المؤلفون: Elena Vallespín, Luis García-Guereta, Lara Rodriguez-Laguna, Luis Fernández, María Bravo García-Morato, Kristina Ibáñez, Laura Casamayor Polo, Pablo Lapunzina, Elena Ruiz-Bravo, Sixto García-Miñaur, Marta Ortega, Patricia Muñoz-Cabello, Angela del Pozo, Ana Belén Enguita Valls, Rubén Martín-Arenas, María Palomares-Bralo
المصدر: Clinical geneticsREFERENCES. 99(3)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cardiomyopathy, Inheritance Patterns, Genetic Variation, High-Throughput Nucleotide Sequencing, Cardiomyopathy, Hypertrophic, medicine.disease, Glycogen Storage Disease Type IIb, Loss of Function Mutation, Lysosomal-Associated Membrane Protein 2, Genetics, medicine, Humans, Danon disease, Female, business, Genetics (clinical), Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940046055e508f6b5def7177b7b9cfccTest
https://pubmed.ncbi.nlm.nih.gov/33226119Test -
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المؤلفون: Lucía Daniela, Espeche, Andrea Paula, Solari, María Ángeles, Mori, Rubén Martín, Arenas, María, Palomares, Myriam, Pérez, Cinthia, Martínez, Vanesa, Lotersztein, Mabel, Segovia, Romina, Armando, Liliana Beatriz, Dain, Julián, Nevado, Pablo, Lapunzina, Sandra, Rozental
المصدر: Molecular biology reports. 47(9)
مصطلحات موضوعية: Male, DNA Copy Number Variations, Argentina, Microarray Analysis, Chromosomes, Cohort Studies, Intellectual Disability, Karyotyping, Cytogenetic Analysis, Humans, Female, Genetic Testing, Public Health, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::208085ca0689660d31ffc9531cb51f27Test
https://pubmed.ncbi.nlm.nih.gov/32920771Test -
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المؤلفون: Carlos Ibáñez, V.E.F. Montaño, Susana Noval, B. Jimenez-Rolando, Elena Vallespín, Rubén Martín-Arenas, E. Mata Diaz, A. del Pozo, J.C. Silla, I. Rosa-Perez
المصدر: Archivos de la Sociedad Española de Oftalmología. 93:119-125
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, 030221 ophthalmology & optometry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::47c39ee82597624f369d5d83c52c3b40Test
https://doi.org/10.1016/j.oftal.2017.03.012Test