Export 113 results:
Author Title Type [ Year] Filters: First Letter Of Last Name is E [Clear All Filters]
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7. doi:10.1016/j.gene.2015.06.039.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol. 2015;22(12):1548-55. doi:10.1111/ene.12782.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC Genomics. 2015;16:69. doi:10.1186/s12864-015-1280-3.
Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC genomics. 2015;16:69. doi:10.1186/s12864-015-1280-3.
Prediction of human population responses to toxic compounds by a collaborative competition. Nature biotechnology. 2015. doi:10.1038/nbt.3299.
A Comprehensive DNA Methylation Profile of Epithelial-to-Mesenchymal Transition. Cancer research. 2014;74:5608–19. doi:10.1158/0008-5472.CAN-13-3659.
A Comprehensive DNA Methylation Profile of Epithelial-to-Mesenchymal Transition. Cancer research. 2014;74:5608–19. doi:10.1158/0008-5472.CAN-13-3659.
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscular disorders : NMD. 2014;24:660-5. doi:10.1016/j.nmd.2014.04.004.
Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer. Oncotarget. 2013. Available at: http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=1444&path%5B%5D=1824.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.
Genome Maps, a new generation genome browser. Nucleic acids research. 2013;41:W41-W46. doi:10.1093/nar/gkt530.
Mammosphere Formation in Breast Carcinoma Cell Lines Depends upon Expression of E-cadherin. PLoS ONE. 2013;8:e77281 -. Available at: http://dx.doi.org/10.1371%2Fjournal.pone.0077281.
Mammosphere formation in breast carcinoma cell lines depends upon expression of E-cadherin. PLoS One. 2013;8(10):e77281. doi:10.1371/journal.pone.0077281.
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease. Orphanet journal of rare diseases. 2012;7:103. doi:10.1186/1750-1172-7-103.
Using GPUs for the Exact Alignment of Short-read Genetic Sequences by Means of the Burrows–Wheeler Transform. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM. 2012;9:1245-1256. doi:10.1109/TCBB.2012.49.
Using GPUs for the exact alignment of short-read genetic sequences by means of the Burrows-Wheeler transform. IEEE/ACM Trans Comput Biol Bioinform. 2012;9(4):1245-56. doi:10.1109/TCBB.2012.49.
Using GPUs for the Exact Alignment of Short-Read Genetic Sequences by Means of the Burrows-Wheeler Transform. IEEE/ACM Transactions on Computational Biology and Bioinformatics. 2012;9(4):1245 - 1256. doi:10.1109/TCBB.2012.49.
Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.
Discovery of an ebolavirus-like filovirus in europe. PLoS pathogens. 2011;7:e1002304.
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome research. 2010;20:170-9.