Detalhe da pesquisa
1.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
J Med Genet
; 61(4): 363-368, 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38290823
2.
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.
J Med Genet
; 59(11): 1082-1086, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35414530
3.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet
; 59(12): 1151-1164, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35764379
4.
The Role of C-Reactive Protein in Early Detection of Myocarditis Associated With Clozapine.
J Clin Psychopharmacol
; 38(5): 540-542, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30113354
5.
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
S Afr Med J
; 105(7): 558-63, 2015 Sep 21.
Artigo
Inglês
| MEDLINE | ID: mdl-26428751