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tarbell ds[Author]
(25 results)?
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023.
Front Genet. 2023.
PMID: 36968585
Free PMC article.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ.
Yarnell DS, et al.
Am J Med Genet A. 2020 Dec;182(12):3007-3013. doi: 10.1002/ajmg.a.61886. Epub 2020 Sep 29.
Am J Med Genet A. 2020.
PMID: 32990340
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