Centre hospitalier universitaire (CHU) d'Angers

Hospital


Location: Angers, France (FR) FR

ISNI: 0000000404720283

ROR: https://ror.org/0250ngj72

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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Unpublished / Preprint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

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution Combined antifungal therapy is superior to monotherapy in pulmonary scedosporiosis in cystic fibrosis (2019) Schwarz C, Brandt C, Melichar V, Runge C, Heuer E, Sahly H, Schebek M, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity (2018) Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, et al. Journal article Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy (2017) Bauche S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, et al. Journal article Impaired Decision Making and Loss of Inhibitory-Control in a Rat Model of Huntington Disease (2016) El Massioui N, Lamirault C, Yague S, Adjeroud N, Garces D, Maillard A, Tallot L, et al. Journal article T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly (2016) Potorac I, Petrossians P, Daly AF, Alexopoulou O, Borot S, Sahnoun-Fathallah M, Castinetti F, et al. Journal article Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 (2014) Boehm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, et al. Journal article
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