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Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Deignan JL, Astbury C, Behlmann A, Guha S, Monaghan KG, Reddi HV, Seifert BA, Tayeh M, Wakeling E; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Among authors: wakeling e. Genet Med. 2021 Dec;23(12):2462. doi: 10.1038/s41436-020-00961-6. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046848 Free article. No abstract available.
Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency.
Rajpurkar M, Buck S, Lafferty J, Wakeling E, Ravindranath Y, Savaşan S. Rajpurkar M, et al. Among authors: wakeling e. J Pediatr Hematol Oncol. 2019 Nov;41(8):e542-e545. doi: 10.1097/MPH.0000000000001292. J Pediatr Hematol Oncol. 2019. PMID: 30188351
Different Clonal T-Large Granular Lymphocyte Proliferations in SCID.
Savaşan S, Wakeling E, Knight T, Buck S, Gadgeel M. Savaşan S, et al. Among authors: wakeling e. J Clin Immunol. 2019 Apr;39(3):245-248. doi: 10.1007/s10875-019-00614-7. Epub 2019 Mar 27. J Clin Immunol. 2019. PMID: 30919140 No abstract available.
165 results