Autres
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
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