Detalhe da pesquisa
1.
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
J Med Genet
; 59(8): 810-816, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462290
2.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732