Detalhe da pesquisa
1.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol;
41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33534079
2.
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Front Neurosci;
17: 1123784, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36937657