Detalhe da pesquisa
1.
Food-Induced Anaphylaxis among Children Weighing <15 kg: A Single-Center Case Series of the Pediatric Emergency Department.
Int Arch Allergy Immunol
; 183(5): 507-516, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34883479
2.
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Am J Med Genet A
; 191(8): 2245-2248, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37134193
3.
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment.
Eur J Med Genet
; 65(3): 104446, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134569
4.
A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding.
J Neurol Sci
; 412: 116758, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193017