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1.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38131308
2.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24706941
3.
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
Clin Dysmorphol
; 21(4): 208-211, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22797553
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