Hôpital Necker-Enfants malades

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype (2021) Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, et al. Journal article Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) (2020) Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, et al. Journal article CONTRIBUTION OF DEFECTIVE NON-APOPTOTIC FAS SIGNALING TO IMMUNE DYSREGULATION IN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS) (2020) Staniek J, Kalina T, Andrieux G, Boerries M, Janowska I, Fuentes M, Bakardjieva M, et al. Conference contribution MDCT ARTHROGRAPHY ASSESSMENT OF THE SEVERITY OF CARTILAGE DAMAGE AND SCAPHOLUNATE DISSOCIATION REGARDING SPECIFIC-COMPONENT TEARS OF THE SCAPHOLUNATE INTEROSSEOUS LIGAMENT (2020) Crema MD, Quere JB, Phan C, Guermazi A, Roemer F, Miquel A, Arrive L Conference contribution Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial. (2020) Male C, Lensing AW, Palumbo JS, Kumar R, Nurmeev I, Hege K, Bonnet D, et al. Journal article New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al. Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects (2020) Körber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, et al. Journal article EANO–EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma (2019) Franceschi E, Hofer S, Brandes AA, Frappaz D, Kortmann RD, Bromberg J, Dangouloff-Ros V, et al. Journal article, Review article Placenta Imaging Workshop 2018 report: Multiscale and multimodal approaches (2019) Slator P, Aughwane R, Cade G, Taylor D, David AL, Lewis R, Jauniaux E, et al. Journal article, Review article