مقالات بحثية تمّ التفويض بإتاحتها للجميع - Sergi Beltranمزيد من المعلومات
عدد المقالات البحثية غير المتاحة للجميع في أي موقع: 4
مراجعة
Two novel mutations in the BCKDK (branched‐chain keto‐acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients‏
A García‐Cazorla, A Oyarzabal, J Fort, C Robles, E Castejón, ...‏
Human mutation 35 (4), 470-477, 2014‏
التفويضات: Government of Spain‏
مراجعة
Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations‏
S Curiel-Olmo, R Mondéjar, C Almaraz, M Mollejo, L Cereceda, R Marès, ...‏
Blood, The Journal of the American Society of Hematology 129 (8), 1042-1045, 2017‏
التفويضات: Government of Spain‏
مراجعة
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS‏
J Garcia-Reyero, NM Magunacelaya, SG de Villambrosia, AG Mediavilla, ...‏
Journal of Clinical Pathology, 2020‏
التفويضات: Government of Spain‏
مراجعة
Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke‏
C Carrera, J Jimenez-Conde, S Derdak, K Rabionet, C Vives-Bauzá, ...‏
Thrombosis and Haemostasis 116 (6), 1165-1171, 2016‏
التفويضات: US National Institutes of Health, Government of Spain‏
عدد المقالات البحثية المتاحة للجميع في موقع ما: 86
مراجعة
Pan-cancer analysis of whole genomes.‏
S Hirano, L Yang, M Juul, CA Purdie, BP O'Neill, R Kabbe, ...‏
Nature 578 (DKFZ-2020-01051), 82-93, 2020‏
التفويضات: US National Institutes of Health, Cancer Research UK, UK Medical Research …‏
مراجعة
Transcriptome and genome sequencing uncovers functional variation in humans‏
T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ...‏
Nature 501 (7468), 506-511, 2013‏
التفويضات: Swiss National Science Foundation, US National Institutes of Health, German …‏
مراجعة
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources‏
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...‏
Nucleic acids research 47 (D1), D1018-D1027, 2019‏
التفويضات: US Department of Energy, US National Institutes of Health, British Heart …‏
مراجعة
The matchmaker exchange: A platform for rare disease gene discovery‏
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...‏
Human Mutation 36 (10), 915-921, 2015‏
التفويضات: US Department of Energy, US National Institutes of Health, Canadian …‏
مراجعة
Effect of predicted protein-truncating genetic variants on the human transcriptome‏
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...‏
Science 348 (6235), 666-669, 2015‏
التفويضات: Swiss National Science Foundation, US National Institutes of Health, Natural …‏
مراجعة
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing‏
TS Alioto, I Buchhalter, S Derdak, B Hutter, MD Eldridge, E Hovig, ...‏
Nature communications 6, 2015‏
التفويضات: Canadian Institutes of Health Research, Genome Canada, Prostate Cancer …‏
مراجعة
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy‏
C Balbás-Martínez, A Sagrera, E Carrillo-de-Santa-Pau, J Earl, ...‏
Nature genetics 45 (12), 1464-1469, 2013‏
التفويضات: US National Institutes of Health, Government of Spain‏
مراجعة
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories‏
P AC't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ...‏
Nature biotechnology 31 (11), 1015, 2013‏
التفويضات: Swiss National Science Foundation, US National Institutes of Health, Swedish …‏
مراجعة
GA4GH: international policies and standards for data sharing across genomic research and healthcare‏
HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ...‏
Cell Genomics 1 (2), 100029, 2021‏
التفويضات: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …‏
مراجعة
High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes‏
P Pereiro, P Balseiro, A Romero, S Dios, G Forn-Cuni, B Fuste, JV Planas, ...‏
PLoS One 7 (5), e35369, 2012‏
التفويضات: Government of Spain‏
مراجعة
Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing‏
R Moreira, P Balseiro, JV Planas, B Fuste, S Beltran, B Novoa, A Figueras‏
PloS one 7 (4), e35009, 2012‏
التفويضات: Government of Spain‏
مراجعة
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation‏
N Martínez, C Almaraz, JP Vaqué, I Varela, S Derdak, S Beltran, ...‏
Leukemia 28 (6), 1334-1340, 2014‏
التفويضات: Government of Spain‏
مراجعة
Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program‏
C Estarás, N Akizu, A García, S Beltrán, X de la Cruz, MA Martínez-Balbás‏
Development 139 (15), 2681-2691, 2012‏
التفويضات: Government of Spain‏
مراجعة
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)‏
D Genis, S Ortega-Cubero, H San Nicolás, J Corral, J Gardenyes, ...‏
Neurology 91 (21), e1988-e1998, 2018‏
التفويضات: Government of Spain‏
مراجعة
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer‏
C Esteban-Jurado, M Vila-Casadesús, P Garre, JJ Lozano, ...‏
Genetics in Medicine 17 (2), 131-142, 2014‏
التفويضات: European Commission, Government of Spain‏
مراجعة
CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1− mantle cell lymphoma‏
D Martín-Garcia, A Navarro, R Valdés-Mas, G Clot, J Gutiérrez-Abril, ...‏
Blood, The Journal of the American Society of Hematology 133 (9), 940-951, 2019‏
التفويضات: Government of Spain‏
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