Detalhe da pesquisa
1.
A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
Am J Med Genet A
; 188(7): 1972-1978, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35274444
2.
Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.
Stem Cell Res
; 75: 103309, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217995