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1.
[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(5): 591-595, 2024 May 10.
Artículo
en Chino
| MEDLINE | ID: mdl-38684307
2.
Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease.
Front Cardiovasc Med;
11: 1367108, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38450370
3.
Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.
Eur J Pediatr;
183(4): 1881-1890, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38305888
4.
Clinical features and diagnostic value of metagenomic next -generation sequencing in five cases of non-HIV related Pneumocystis jirovecii pneumonia in children.
Front Cell Infect Microbiol;
13: 1132472, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37009508
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