المؤلفون: Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia

المساهمون: Biosciences, Department of Medical and Clinical Genetics, Medicum, University of Helsinki

مصطلحات موضوعية: NEBULIN, VARIANTS, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Funded by Instituto de Salud Carlos III grant CB16/12/00284 to JVC, Instituto de Salud Carlos III grant PT17/0015/0043, Instituto de Salud Carlos III grant PI16/01113 to JVC, and Muscular Dystrophy UK grant 16NEB-PG36-0094-2 to LS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Moreau-Le Lan , S , Aller , E , Calabria , I , Gonzalez-Tarancon , L , Cardona-Gay , C , Martinez-Matilla , M , Aparisi , M J , Selles , J , Sagath , L , Pitarch , I , Muelas , N , Cervera , J V , Millan , J M & Pedrola , L 2018 , ' New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy ' , PLoS One , vol. 13 , no. 12 , 0207296 . https://doi.org/10.1371/journal.pone.0207296; ORCID: /0000-0002-6754-3830/work/52399954; http://hdl.handle.net/10138/285188; 17531396-7307-4a7a-a9ac-84ec5bec7576; 85058013353; 000452212400029

الاتاحة: http://hdl.handle.net/10138/285188

المؤلفون: Díaz-García, César, Herraiz, Sonia, Such, Esperanza, Andrés, María del Mar, Villamón, Eva, Mayordomo-Aranda, Empar, Cervera, José V, Sanz, Miguel A, Pellicer, Antonio

المساهمون: Spanish Ministry of Economy and Competitiveness, Regional Valencian Ministry of Education

المصدر: Human Reproduction ; volume 34, issue 8, page 1485-1493 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/dez115
http://academic.oup.com/humrep/article-pdf/34/8/1485/29115185/dez115.pdf

المؤلفون: Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia

المساهمون: Kaya, Namik, Instituto de Salud Carlos III

المصدر: PLOS ONE ; volume 13, issue 12, page e0207296 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0207296
http://dx.plos.org/10.1371/journal.pone.0207296

المؤلفون: Hernándiz, Amparo, Zúñiga, Angel, Valera, Francisco, Domingo, Diana, Ontoria‐Oviedo, Imelda, Marí, Jose F., Román, Jose A., Calvo, Inmaculada, Insa, Beatriz, Gómez, Rosa, Cervera, José V., Miralles, Manuel, Montero, Jose A., Martínez‐Dolz, Luis, Sepúlveda, Pilar

المساهمون: Fundación para la Investigación del Hospital Universitari La Fe, Instituto de Salud Carlos III

المصدر: Clinical Genetics ; volume 99, issue 2, page 269-280 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13879
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13879
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13879

المؤلفون: Cigudosa, Juan C., Odero, Maria D., Calasanz, M. José, Solé, Francesc, Salido, Marta, Arranz, Eva, Martínez‐Ramirez, Angel, Urioste, Miguel, Alvarez, Sara, Cervera, Jose V., MacGrogan, Donald, Sanz, Miguel A., Nimer, Stephen D., Benitez, Javier

المساهمون: Spanish Ministry of Science and Technology

المصدر: Genes, Chromosomes and Cancer ; volume 36, issue 4, page 406-412 ; ISSN 1045-2257 1098-2264

الاتاحة: http://dx.doi.org/10.1002/gcc.10180
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgcc.10180
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.10180