Institute of Genetics and Molecular and Cellular Biology / Institut de génétique et de biologie moléculaire et cellulaire (IGBMC)

Research facility


Location: Illkirch-Grafenstaden (Illkirch-Graffenstaden), France (FR) FR

ISNI: 0000000406382716

ROR: https://ror.org/0015ws592

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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Unpublished / Preprint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

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Abstract

Journal

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 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 Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017) Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al. Journal article Asymmetrical ON/OFF retinal dysfunction in the mdx(Cv3) mouse model of Duchenne muscular dystrophy (2016) Tsai TI, Barboni MTS, Nagy BV, Roux MJ, Rendon A, Kremers J 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 Extracellular matrix of secondary lymphoid organs impacts on B-cell fate and survival (2013) Song J, Lokmic Z, Laemmermann T, Rolf J, Wu C, Zhang X, Hallmann R, et al. Journal article, Original article