Azienda Ospedaliera Universitaria Meyer

Hospital


Location: Florenz (Firenze), Italy (IT) IT

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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Unpublished / Preprint

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Abstract

Journal

Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status (2019) Lyons PA, Peters JE, Alberici F, Liley J, Coulson RM, Astle W, Baldini C, et al. Journal article Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia (2019) Kobow K, Ziemann M, Kaipananickal H, Khurana I, Mühlebner A, Feucht M, Hainfellner JA, et al. Journal article Weaning practices in phenylketonuria vary between health professionals in Europe (2019) Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, Arslan N, et al. Journal article De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Journal article Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study (2018) Whelan CD, Altmann A, Botia JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, et al. Journal article Genetic diagnosis of Mendelian disorders via RNA sequencing (2017) Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, et al. Journal article Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations (2017) Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet WGM, et al. Journal article Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis (2016) Romagnani P, Giglio S, Angelotti ML, Provenzano A, Becherucci F, Mazzinghi B, Mueller S, et al. Journal article
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