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Journal of Medical Genetics|April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra, M Smidt, M J G Banning, et al.Molecular Psychiatry|February 12, 2026
Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries SyndromeA H A Verboven, S Puvogel, B L Latour, et al.American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.Journal of Dairy Science|December 11, 2024
The economic impact of purulent vaginal discharge in dairy herds within a single lactationO A Ojeda-Rojas, J Pérez-Báez, S Casaro, et al.Journal of Dairy Science|January 18, 2021
The economic cost of metritis in dairy herdsJ Pérez-Báez, T V Silva, C A Risco, et al.Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.European Journal of Human Genetics : EJHG|January 28, 2018
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disabilityAnnemieke J M H Verkerk, Shimriet Zeidler, Guido Breedveld, et al.Human Mutation|September 17, 2013
Clinical significance of de novo and inherited copy-number variationAnneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, et al.Pediatric Radiology|August 14, 2025
Early radiologic tumour volume response in non-metastatic rhabdomyosarcoma is not predictive for survivalIsabelle S A de Vries, Carlo Morosi, Gianni Bisogno, et al.American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.Pageof 88