Université Bourgogne Franche-Comté

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article Stable oxygen isotopes of crocodilian tooth enamel allow tracking Plio-Pleistocene evolution of freshwater environments and climate in the Shungura Formation (Turkana Depression, Ethiopia) (2024) Gardin A, Pucéat E, Garcia G, Boisserie JR, Euriat A, Joachimski M, Nutz A, et al. Journal article, Original 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 CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (2023) Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, 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 Antarctic Bioconstructional Bryozoans from Terra Nova Bay (Ross Sea): Morphology, Skeletal Structures and Biomineralization (2023) Lombardi C, Kuklinski P, Spirandelli E, Bruzzone G, Raiteri G, Bordone A, Mazzoli C, et al. Journal article, Original article In situ mapping of biomineral skeletal proteins by molecular recognition imaging with antibody-functionalized AFM tips (2023) Khurshid B, Lesniewska E, Polacchi L, L'Héronde M, Jackson DJ, Motreuil S, Thomas J, et al. Journal article Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy (2022) Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, et al. Journal article Quantum optimal control in quantum technologies. Strategic report on current status, visions and goals for research in Europe (2022) Koch C, Boscain U, Calarco T, Dirr G, Filipp S, Glaser SJ, Kosloff R, et al. Journal article, Review article Odorant Metabolism in Humans (2022) Kornbausch N, Debong M, Büttner A, Heydel JM, Loos H Journal article, Review article