Detalhe da pesquisa
1.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
2.
Development and initial validation of a screening tool for visual ability/performance of people with polyhandicap.
Ann Phys Rehabil Med
; 67(1): 101773, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134855
3.
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Brain
; 135(Pt 10): 2980-93, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065789
4.
Functional Vision Analysis in Patients With CHARGE Syndrome.
J Pediatr Ophthalmol Strabismus
; 57(2): 120-128, 2020 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203596
5.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet J Rare Dis
; 6: 21, 2011 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569298