Search details
1.
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Am J Med Genet C Semin Med Genet
; 190(2): 178-186, 2022 06.
Article
in English
| MEDLINE | ID: mdl-36097743
2.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35300924
Results
1 -
2
de 2
1
Next >
>>