Autres

Yann Pecrix et al.
Sunflower resistance to multiple downy mildew pathotypes revealed by recognition of conserved effectors of the oomycete Plasmopara halstedii
The Plant Journal 2018, vol. 97, issue 4
doi: 10.1111/tpj.14157

Nadine AME van der Beek et al.
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
European Journal of Human Genetics 2018, vol. 27, issue 3
doi: 10.1038/s41431-018-0250-z

L. Allach El Khattabi et al.
Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting
Ultrasound in Obstetrics & Gynecology 2018, vol. 54, issue 2
doi: 10.1002/uog.20112

Miguel M. Pinto et al.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia
Muscle & Nerve 2018
doi: 10.1002/mus.26305

Bénédicte Stengel et al.
Risk profile, quality of life and care of patients with moderate and advanced CKD: The French CKD-REIN Cohort Study
Nephrology Dialysis Transplantation 2018, vol. 34, issue 2
doi: 10.1093/ndt/gfy058

Maria-Teresa Dotti et al.
Discordant manifestations in Italian brothers with GNE myopathy
Journal of the Neurological Sciences 2018, vol. 386
doi: 10.1016/j.jns.2018.01.002

Legendre M. et al.
In-depth study of Mollivirus sibericum, a new 30,000-y-old giant virus infecting Acanthamoeba
Proc Nat Acad Sci U.S.A. 2015 112(38) :E5327-E5335.
doi: 10.1073/pnas.1510795112

Stéphanie Bauché et al.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics 2016, vol. 99, issue 3
doi: 10.1016/j.ajhg.2016.06.033