Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Endoscopic papillectomy for ampullary lesions of minor papilla (2024) Vu Trung K, Heise C, Abou-Ali E, Auriemma F, Karam E, van der Wiel SE, Bruno MJ, et al. Journal article Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours (2023) Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C, Descotes F, et al. Journal article Endoscopic papillectomy for ampullary lesions in patients with familial adenomatous polyposis compared with sporadic lesions: a propensity score-matched cohort (2023) Vu Trung K, Abou-Ali E, Caillol F, Paik WH, Napoleon B, Masaryk V, van der Wiel SE, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Clinical Features, Neuropathology, and Surgical Outcome in Patients with Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene (2023) Barba C, Blümcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, et al. Journal article Outcomes of rescue procedures in the management of locally recurrent ampullary tumors: A Pancreas 2000/EPC study (2023) Karam E, Hollenbach M, Ali EA, Auriemma F, Gulla A, Heise C, Regner S, et al. Journal article Fluid suppression in amide proton transfer-weighted (APTw) CEST imaging: New theoretical insights and clinical benefits (2023) Schüre JR, Casagranda S, Sedykh M, Liebig P, Papageorgakis C, Mancini L, Bisdas S, et al. Journal article Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023) Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al. Journal article