Detalhe da pesquisa
1.
Research priorities for mitochondrial disorders: Current landscape and patient and professional views.
J Inherit Metab Dis
; 45(4): 796-803, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543492
2.
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Clin Exp Ophthalmol
; 41(9): 835-41, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23566044
3.
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Fertil Steril
; 115(6): 1521-1532, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745725
4.
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Neurology
; 88(2): 131-142, 2017 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974645
5.
Understanding the impact of genetic testing for inherited retinal dystrophy.
Eur J Hum Genet
; 21(11): 1209-13, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403902
6.
Understanding the expectations of patients with inherited retinal dystrophies.
Br J Ophthalmol
; 97(8): 1057-61, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740962