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1.
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
J Inherit Metab Dis
; 44(1): 240-252, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32876354
2.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Fam Cancer
; 21(4): 389-398, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981296
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