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.
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
Genes (Basel)
; 14(9)2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761885
3.
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
BMC Med Genomics
; 14(1): 25, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478492
4.
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.
Ital J Pediatr
; 44(1): 138, 2018 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30458885