University of Amsterdam

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay (2020) Kobow K, Jabari S, Pieper T, Kudernatsch M, Polster T, Woermann FG, Kalbhenn T, et al. Journal article Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020) van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, et al. Journal article Hydrogenase Mimics in M12L24 Nanospheres to Control Overpotential and Activity in Proton-Reduction Catalysis (2020) Zaffaroni R, Orth N, Ivanovic-Burmazovic I, Reek JN Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Definition, aims, and implementation of GA2LEN/HAEi Angioedema Centers of Reference and Excellence (2020) Maurer M, Aberer W, Agondi R, Al-Ahmad M, Al-Nesf MA, Ansotegui I, Arnaout R, et al. Journal article Same same but different: A Web-based deep learning application revealed classifying features for the histopathologic distinction of cortical malformations (2020) Kubach J, Muhlebner-Fahrngruber A, Soylemezoglu F, Miyata H, Niehusmann P, Honavar M, Rogerio F, et al. Journal article The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas (2020) Bongaarts A, Van Scheppingen J, Korotkov A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WG, et al. Journal article Effects of Vedolizumab in Patients With Primary Sclerosing Cholangitis and Inflammatory Bowel Diseases (2020) Lynch KD, Chapman RW, Keshav S, Montano-Loza AJ, Mason AL, Kremer A, Vetter M, et al. Journal article Rapid Colorimetric Detection of Pseudomonas aeruginosa in Clinical Isolates Using a Magnetic Nanoparticle Biosensor (2019) Alhogail S, Suaifan GARY, Bikker FJ, Kaman WE, Weber K, Cialla-May D, Popp J, Zourob MM Journal article Chandra Spectral and Timing Analysis of Sgr A∗'s Brightest X-Ray Flares (2019) Haggard D, Nynka M, Mon B, Hernandez NDLC, Nowak M, Heinke C, Neilsen J, et al. Journal article