CNRGH

Bohm J. et al.
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Human Mutation (2017).Mar. 38 (4): 426-438
doi: 10.1002/humu.23172

Arseneault M. et al.
Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma.
Sci Rep. (2017) Mar. 7:44876.
doi: 10.1038/srep44876

Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900

Arandel L. et al.
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.
Disease Models Mechanisms (2017) Feb. 10: 487-497.
doi: 10.1242/dmm.027367

Bougneres P. et al.
Using spatio-temporal surveillance data to test the infectious environment of children before type 1 diabetes diagnosis.
PLoS One (2017) Feb 2. 12(2):e0170658.
doi: 10.1371/journal.pone.0170658

Bruel AL. et al.
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Clin Genet. (2017) Feb. 91(2):333-338.
doi: 10.1111/cge.12794

Pivot X. et al.
Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort.
NPJ Breast Cancer (2017) Feb. 3:4.
doi: 10.1038/s41523-017-0005-y

Sefrioui D. et al.
Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients.
Clin Chim Acta (2017) Feb. 465:1-4.
doi: 10.1016/j.cca.2016

Stoekle HC. et al.
Toward dynamic informed consent.
Med Sci. (Paris) (2017) Feb. 33(2):188-192.
doi: 10.1051/medsci/20173302015

Costantino F. et al.
A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14.
Ann Rheum Dis. (2017) Jan. 76(1):310-314.
doi: 10.1136/annrheumdis-2016-209449

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