المؤلفون: Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E, Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K, Ly, Melissa, Neumann, Andrew J, Pal, Lipika R, Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C, Srinivasan, Rajgopal, Yee, Stephen F, Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A, Hosur, Raghavendra, Peng, Jian, Bernard, Brady M, Berry, Michael, Dong, Shengcheng, Boyle, Alan P, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S, De Baets, Greet, Bonache, Sandra, Diez, Orland, Gutierrez-Enriquez, Sara, Fernandez, Alejandro, Montalban, Gemma, Ootes, Lars, Ozkan, Selen, Padilla, Natalia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J, Wei, Qiong, Xu, Qifang, Dunbrack, Roland L, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V, Makeev, Vsevolod J, Penzar, Dmitry D, Vorontsov, Ilya E, Favorov, Alexander V, Forman, Julia R, Hasenahuer, Marcia, Fornasari, Maria S, Parisi, Gustavo, Avsec, Ziga, Celik, Muhammed H, Thi, Yen Duong Nguyen, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K, Goke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham RS, Frankish, Adam, Mudge, Jonathan M, Harrow, Jennifer, Young, Erin L, Yu, Yao

المصدر: Genome Biology. 25(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Humans, Computational Biology, Mutation, Missense, Phenotype, Critical Assessment of Genome Interpretation Consortium, Environmental Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/60j7f44b

المؤلفون: Cline, Melissa S, Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez‐Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier L, Mishne, Gilad, Moles‐Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D, O'Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A, Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T, Spurdle, Amanda B, Goldgar, David E, Consortium, The ENIGMA

المصدر: Human Mutation. 40(9)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Breast Cancer, Cancer, Ovarian Cancer, Rare Diseases, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Computational Biology, Early Detection of Cancer, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Models, Genetic, Ovarian Neoplasms, BRCA, BRCA1, BRCA2, CAGI, CAGI5, variant interpretation, ENIGMA Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7fr1b9zx

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المؤلفون: Morata, Jordi^Aff1, Riera, Casandra^Aff1, de la Cruz, Xavier^{Aff1, Aff2}

المساهمون: Pontarotti, Pierre, editor^AffID1

المصدر: Evolutionary Biology: Mechanisms and Trends. :343-356

المؤلفون: Brasil, Sandra^Aff1, Leal, Fátima^Aff1, Vega, Ana^Aff1, Navarrete, Rosa^Aff1, Ecay, María Jesús^Aff1, Desviat, Lourdes R.^Aff1, Riera, Casandra^Aff2, Padilla, Natàlia^Aff2, de la Cruz, Xavier^{Aff2, Aff3}, Couce, Mari Luz^Aff4, Martin-Hernández, Elena^Aff5, Morais, Ana^Aff6, Pedrón, Consuelo^Aff7, Peña-Quintana, Luis^Aff8, Rigoldi, Miriam^Aff9, Specola, Norma^Aff10, de Almeida, Isabel Tavares^Aff11, Vives, Inmaculada^Aff12, Yahyaoui, Raquel^Aff13, Rodríguez-Pombo, Pilar^Aff1, Ugarte, Magdalena^Aff1, Pérez-Cerda, Celia^Aff1, Merinero, Begoña^Aff1, Pérez, Belén^Aff1

المصدر: Orphanet Journal of Rare Diseases. 13(1)

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المؤلفون: Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén

مصطلحات موضوعية: integumentary system, polycyclic compounds, nutritional and metabolic diseases, sense organs, skin and connective tissue diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ea9ab858875c31f6b415ec27df11bce

المؤلفون: Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén

مصطلحات موضوعية: integumentary system, hemic and lymphatic diseases, polycyclic compounds, nutritional and metabolic diseases, heterocyclic compounds

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ccedbe355bbc2ad430a7ad92b48877

المؤلفون: Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María, Desviat, Lourdes, Riera, Casandra, Natàlia Padilla, Cruz, Xavier De La, Couce, Mari, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, Almeida, Isabel De, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d0d21fc2924b9f4882f8e73ea1fc5a4

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