Detalhe da pesquisa
1.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36849228
2.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31876365
3.
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes (Basel)
; 13(7)2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35886062
4.
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Genes (Basel)
; 13(6)2022 06 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35741838