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1.
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.
Hum Genomics
; 17(1): 5, 2023 02 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36740706
2.
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Cell Rep Med
; 3(7): 100670, 2022 07 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35764087
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