Centre hospitalier universitaire de Rennes / CHU Rennes

Impact of age on safety of Busulfan-Melphalan followed by autologous hematopoietic stem-cell transplantation versus standard chemotherapy in the patients of the EURO-E.W.I.N.G. 99 and Ewing 2008 clinical trials (2024) Choderlos de Laclos X, Risbourg S, Marec-Bérard P, Cécile Le Deley M, Tabone MD, Bertucci F, Gaspar N, et al. Journal article Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Sex-related differences among patients undergoing surgical aortic valve replacement—a propensity score matched study (2024) Zierer A, De Paulis R, Bakhtiary F, Ahmad AES, Andreas M, Autschbach R, Benedikt P, et al. Journal article 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 Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum Scoring PD-L1 Expression in Urothelial Carcinoma: An International Multi-Institutional Study on Comparison of Manual and Artificial Intelligence Measurement Model (AIM-PD-L1) Pathology Assessments (2024) Rüschoff J, Kumar G, Badve S, Jasani B, Krause E, Rioux-Leclercq N, Rojo F, et al. Journal article De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Cutaneous Manifestations, Clinical Characteristics, and Prognosis of Patients with Systemic Sclerosis Sine Scleroderma: Data from the International EUSTAR Database (2023) Lescoat A, Huang S, Carreira PE, Siegert E, De Vries-Bouwstra J, Distler J, Smith V, et al. Journal article