Nantes University Hospital / Centre hospitalier universitaire de Nantes (CHU)

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020) Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, 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 Long-term outcome after allogeneic hematopoietic cell transplantation for myelofibrosis (2019) Robin M, De Wreede LC, Wolschke C, Schetelig J, Eikema DJ, Van Lint MT, Knelange NS, et al. Journal article Optical diagnosis of colorectal polyps with Blue Light Imaging using a new international classification (2019) Subramaniam S, Hayee B, Aepli P, Schoon E, Stefanovic M, Kandiah K, Thayalasekaran S, et al. Journal article Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes (2019) Begemann A, Acuna MA, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, et al. Journal article Chimeric antigen receptor T-cell therapy for multiple myeloma: A consensus statement from the European Myeloma Network (2019) Moreau P, Sonneveld P, Boccadoro M, Cook G, Victoria Mateos M, Nahi H, Goldschmidt H, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al. Journal article Immunoscore feasibility study in routine postsurgical pathologic review for early-stage colon cancer (CC) cases risk-assessment (2018) Belaloui K, Malifarge E, Bohm J, Bossard C, Dienstmann R, Garcia S, Geppert CI, et al. Conference contribution A multicentric, open-label, randomized, comparative clinical trial of two different doses of expanded hbm-mscs plus biomaterial versus iliac crest autograft, for bone healing in nonunions after long bone fractures: Study protocol (2018) Gomez-Barrena E, Padilla-Eguiluz NG, Avendano-Sola C, Payares-Herrera C, Velasco-Iglesias A, Torres F, Rosset P, et al. Journal article