Detalhe da pesquisa
1.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
2.
Newborn screening for adrenoleukodystrophy: International experiences and challenges.
Mol Genet Metab
; 140(4): 107734, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979237
3.
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mol Genet Metab
; 140(3): 107694, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708665