Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière

NanoString technology distinguishes anti-TIF-1g+from anti-Mi-2+dermatomyositis patients (2021) Preusse C, Eede P, Heinzerling L, Freitag K, Koll R, Froehlich W, Schneider U, et al. Journal article Pure large nested variant of urothelial carcinoma (Lnuc) is the prototype of an fgfr3 mutated aggressive urothelial carcinoma with luminal-papillary phenotype (2020) Weyerer V, Eckstein M, Compérat E, Juette H, Gaisa NT, Allory Y, Stöhr R, et al. Journal article Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020) Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al. Journal article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (2020) Kloeckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, 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 Biomarker-based prognosis for people with mild cognitive impairment (ABIDE): a modelling study (2019) van Maurik IS, Vos SJ, Bos I, Bouwman FH, Teunissen CE, Scheltens P, Barkhof F, et al. Journal article Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019) Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al. Conference contribution Influenza vaccination and myocarditis among patients receiving immune checkpoint inhibitors (2019) Awadalla M, Golden DLA, Mahmood SS, Alvi RM, Mercaldo ND, Hassan MZO, Banerji D, et al. Journal article OPEN-LABEL, MULTICENTER, DOSE-ESCALATING PHASE II CLINICAL TRIAL ON THE SAFETY AND EFFICACY OF TADEKINIG ALPHA IN ADULT ONSET STILL'S DISEASE (2017) Gabay C, Fautrel B, Rech J, Spertini F, Feist E, Koetter I, Hachulla E, et al. Conference contribution STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article