Université Bourgogne Franche-Comté

University / College


Location: Dijon, France (FR) FR

ISNI: 0000000449106615

ROR: https://ror.org/02dn7x778

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

From
To

Abstract

Journal

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 Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications (2022) Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, et al. Journal article Beyond technology: A research agenda for social sciences and humanities research on renewable energy in Europe (2022) Krupnik S, Wagner A, Vincent O, Rudek TJ, Wade R, Mišík M, Akerboom S, et al. Journal article