Detalhe da pesquisa
1.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
2.
Umbilical venous catheter- and peripherally inserted central catheter-associated complications in preterm infants with birth weight <â¯1250 g : Results from a survey in Austria and Germany.
Wien Med Wochenschr
; 173(7-8): 161-167, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35939216
3.
Early postnatal high-dose fat-soluble enteral vitamin A supplementation for moderate or severe bronchopulmonary dysplasia or death in extremely low birthweight infants (NeoVitaA): a multicentre, randomised, parallel-group, double-blind, placebo-controlled, investigator-initiated phase 3 trial.
Lancet Respir Med
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643780
4.
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.
JIMD Rep
; 13: 101-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24190797