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Clinica Chimica Acta; International Journal of Clinical Chemistry|June 9, 2024
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutationShiyu Luo, Stuart Rollins, Klaus Schmitz-Abe, et al.American Journal of Medical Genetics. Part A|December 29, 2023
High number of candidate gene variants are identified as disease-causing in a period of 4 yearsSonia Hills, Qifei Li, Jill A Madden, et al.JIMD Reports|November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 VariantsSarah U Morton, Edward G Neilan, Roy W A Peake, et al.Journal of Cachexia, Sarcopenia and Muscle|May 10, 2024
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complexQifei Li, Jasmine Lin, Shiyu Luo, et al.Biorxiv : the Preprint Server for Biology|May 10, 2023
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complexQifei Li, Jasmine Lin, Shiyu Luo, et al.Frontiers in Immunology|December 8, 2018
Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitroGuzman Sanchez-Schmitz, Chad R Stevens, Ian A Bettencourt, et al.Clinical Immunology (Orlando, Fla.)|October 22, 2024
DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndromeFatma Betul Oktelik, Muyun Wang, Sevgi Keles, et al.The Journal of Allergy and Clinical Immunology. Global|September 16, 2024
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiencyAdrian Kahn, Gabriela Luque, Eduardo Cuestas, et al.The Journal of Allergy and Clinical Immunology|October 20, 2019
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1Ye Cui, Sevgi Keles, Louis-Marie Charbonnier, et al.Pediatric Blood & Cancer|November 4, 2016
Ringed sideroblasts in β-thalassemiaKim Cattivelli, Dean R Campagna, Klaus Schmitz-Abe, et al.Pageof 7