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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 33258288
When karyotype is decisive for myelodysplastic syndromes diagnosis.
Perazzio ADSB, Chauffaille MLLF.
Perazzio ADSB, et al.
Hematol Transfus Cell Ther. 2019 Oct-Dec;41(4):371-373. doi: 10.1016/j.htct.2019.03.004. Epub 2019 Jun 14.
Hematol Transfus Cell Ther. 2019.
PMID: 31395457
Free PMC article.
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