France (FR)

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa (2016) Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, et al. Journal article A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia (2016) Wohlfart S, Söder S, Smahi A, Schneider H Journal article Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma (2016) Smith SC, Trpkov K, Chen YB, Mehra R, Sirohi D, Ohe C, Cani AK, et al. Journal article PEPDar: A randomized prospective noninferiority study of ritonavir-boosted darunavir for HIV post-exposure prophylaxis (2016) Faetkenheuer G, Jessen H, Stoehr A, Jung N, Jessen AB, Kuemmerle T, Berger M, et al. Journal article KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference (2016) Schumann G, Liu C, O'Reilly P, Gao H, Song P, Xu B, Ruggeri B, et al. Journal article Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) (2016) Kosfeld A, Kreuzer M, Daniel C, Brand F, Schaefer AK, Chadt A, Weiss AC, et al. Journal article The safety and efficacy of nasobiliary drainage in the treatment of refractory cholestatic pruritus: a multicentre European study (2016) Hegade VS, Krawczyk M, Kremer A, Kuczka J, Gaouar F, Kuiper EMM, Van Buuren HR, et al. Journal article Comparison of prognostic and predictive impact of genomic or central grade and immunohistochemical subtypes or IHC4 in HR+/HER2- early breast cancer: WSG-AGO EC-Doc Trial (2016) Gluz O, Liedtke C, Huober J, Peyro-Saint-Paul H, Kates RE, Kreipe HH, Hartmann A, et al. Journal article Pathogenic, immunologic, and clinical aspects of sepsis - update 2016 (2016) Uhle F, Chousterman BG, Grützmann R, Brenner T, Weber G Journal article