University Hospital Ghent

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Journal article Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation (2018) Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer (2017) Shimelis H, Mesman RLS, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calleja FMGR, et al. Journal article European Dermatology Forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 1: localized scleroderma, systemic sclerosis and overlap syndromes (2017) Knobler R, Moinzadeh P, Hunzelmann N, Kreuter A, Cozzio A, Mouthon L, Cutolo M, et al. Journal article Romosozumab (sclerostin monoclonal antibody) versus teriparatide in postmenopausal women with osteoporosis transitioning from oral bisphosphonate therapy: a randomised, open-label, phase 3 trial (2017) Langdahl BL, Libanati C, Crittenden DB, Bolognese MA, Brown JP, Daizadeh NS, Dokoupilova E, et al. Journal article Biomarkers in patients admitted to the emergency department after exposure to acrylonitrile in a major railway incident involving bulk chemical material (2017) Colenbie S, Buylaert W, Stove C, Deschepper E, Vandewoude K, De Smedt T, Bader M, et al. Journal article Effects of Romosozumab Compared With Teriparatide on Bone Density and Mass at the Spine and Hip in Postmenopausal Women With Low Bone Mass (2017) Genant HK, Engelke K, Bolognese MA, Mautalen C, Brown JP, Recknor C, Goemaere S, et al. Journal article European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis (2017) Knobler R, Moinzadeh P, Hunzelmann N, Kreuter A, Cozzio A, Mouthon L, Cutolo M, et al. Journal article