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1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
2.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38131126
3.
Preprinting is positively associated with early career researcher status in ecology and evolution.
Ecol Evol
; 11(20): 13624-13632, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34707804
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