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Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.The Journal of Allergy and Clinical Immunology|February 18, 2010
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndromeCristina Woellner, E Michael Gertz, Alejandro A Schäffer, et al.The Journal of Allergy and Clinical Immunology|March 1, 2015
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiencyKarin R Engelhardt, Michael E Gertz, Sevgi Keles, et al.Pageof 4