Detalhe da pesquisa
1.
Orthopedic manifestations in children with Prader-Willi syndrome.
BMC Pediatr;
24(1): 118, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38355440
2.
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.
Orphanet J Rare Dis;
19(1): 179, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685110
3.
A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.
Open Forum Infect Dis;
7(8): ofaa314, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32875002
4.
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Medicine (Baltimore);
98(15): e15013, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30985648
5.
Prader-Willi Syndrome Coincident with DiGeorge Syndrome.
Indian J Pediatr;
87(6): 471-472, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31863392