Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023) Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U Journal article Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023) Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al. Journal article SRD5A3-CDG: Twins with an intragenic tandem duplication (2022) Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al. Journal article Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021) Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C Journal article Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al. Journal article Why systematic literature reviews in Fabry disease should include all published evidence (2019) Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B Journal article, Review article Is MED13L-related intellectual disability a recognizable syndrome? (2018) Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, et al. Journal article Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation (2017) Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A Journal article