Detalhe da pesquisa
1.
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
J Med Genet
; 59(12): 1171-1178, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803701
2.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Am J Hum Genet
; 103(1): 100-114, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29979980