Export 187 results:
Author Title Type [ Year] Filters: First Letter Of Last Name is V [Clear All Filters]
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol. 2015;22(12):1548-55. doi:10.1111/ene.12782.
Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. Eur J Oral Sci. 2015;123(5):381-384. doi:10.1111/eos.12212.
Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity. Sci Rep. 2015;5:18494. doi:10.1038/srep18494.
. 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.
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med. 2014;2(2):124-33. doi:10.1002/mgg3.50.
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med. 2014;2(2):124-33. doi:10.1002/mgg3.50.
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics & Genomic Medicine. 2014;2:124-133. doi:10.1002/mgg3.50.
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics & Genomic Medicine. 2014;2:124-133. doi:10.1002/mgg3.50.
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Defining the genomic signature of totipotency and pluripotency during early human development. PLoS One. 2013;8(4):e62135. doi:10.1371/journal.pone.0062135.
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.
Grape antioxidant dietary fiber (GADF) inhibits intestinal polyposis in ApcMin/+ mice: relation to cell cycle and immune response. Carcinogenesis. 2013. doi:10.1093/carcin/bgt140.
Grape antioxidant dietary fiber inhibits intestinal polyposis in ApcMin/+ mice: relation to cell cycle and immune response. Carcinogenesis. 2013;34(8):1881-8. doi:10.1093/carcin/bgt140.
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.