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Journal of Neurodevelopmental Disorders|April 17, 2024
Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIBKatherine B McCullough, Amanda Titus, Kate Reardon, et al.
Biorxiv : the Preprint Server for Biology|August 6, 2025
OmniCellAgent: Towards AI Co-Scientists for Scientific Discovery in Precision MedicineDi Huang, Hao Li, Wenyu Li, et al.
Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.
European Journal of Human Genetics : EJHG|July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndromeRodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
HGG Advances|January 20, 2022
From karyotypes to precision genomics in 9p deletion and duplication syndromesEleanor I Sams, Jeffrey K Ng, Victoria Tate, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 26, 2025
Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis IINettie K Pyne, Jessica Bagel, Charles Shyng, et al.
Biorxiv : the Preprint Server for Biology|December 23, 2024
BioMedGraphica: An All-in-One Platform for Biomedical Prior Knowledge and Omic Signaling Graph GenerationHeming Zhang, Shunning Liang, Tim Xu, et al.
Bioinformatics (Oxford, England)|June 5, 2026
BioMedGraphica: An All-in-One Platform for Joint Textual Biomedical Prior Knowledge and Numeric Graph GenerationHeming Zhang, Shunning Liang, Tim Xu, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2014
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencingAnuja Shah, Clinton J Miller, Cynthia C Nast, et al.
Journal of Cardiovascular Computed Tomography|December 14, 2017
Rationale and design of the worldwide prospective multicenter registry on radiation dose estimates of cardiac CT angiography in daily practice in 2017 (PROTECTION VI)Thomas J Stocker, Simon Deseive, Marcus Chen, et al.
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