Université Bourgogne Franche-Comté

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article Neural metabolic imbalance induced by MOF dysfunction triggers pericyte activation and breakdown of vasculature (2020) Sheikh BN, Guhathakurta S, Tsang TH, Schwabenland M, Renschler G, Herquel B, Bhardwaj V, et al. Journal article Olfaction scaffolds the developing human from neonate to adolescent and beyond (2020) Schaal B, Saxton TK, Loos H, Soussignan R, Durand K Journal article, Review article 100 social sciences and humanities priority research questions for renewable energy in Horizon Europe (2020) von Wirth T, Loorbach D, Wagner A, Koretskaya O, Wade R, Krupnik S, Rudek T, et al. Other publication type New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al. Journal article Cultural evolution and environmental change in Central Europe between 40 and 15 ka (2020) Maier A, Stojakowits P, Mayr C, Pfeifer S, Preusser F, Zolitschka B, Anghelinu M, et al. Journal article 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 Nanoscale deformation mechanics reveal resilience in nacre of Pinna nobilis shell (2019) Gim J, Schnitzer N, Otter LM, Cui Y, Motreuil S, Marin F, Wolf S, et al. Journal article Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019) Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al. Conference contribution