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1.
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Int J Mol Sci
; 23(1)2021 Dec 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35008721
2.
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Front Pharmacol
; 13: 931089, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36278220
3.
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Mol Diagn Ther
; 24(3): 315-325, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32185651
4.
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
J Pediatr (Rio J)
; 95(3): 282-290, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-29715434
5.
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation / Perfil clínico e molecular de recém-nascidos com suspeita ou confirmação de hiperplasia adrenal congênita após a implementação de um programa público de triagem neonatal
J. pediatr. (Rio J.)
; 95(3): 282-290, May-June 2019. tab, graf
Artículo
en Inglés
| LILACS | ID: biblio-1012607
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