Detalhe da pesquisa
1.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33186545
2.
Retinopathy of prematurity treatment in the UK: trends in neonatal anaesthetic support and location of treatment from a national surveillance study.
Eur J Pediatr
; 179(10): 1603-1607, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32367329
3.
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.
BMC Med Genet
; 16: 38, 2015 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-26068435
4.
Clinical validation of a novel web-application for remote assessment of distance visual acuity.
Eye (Lond)
; 36(10): 2057-2061, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34462579
5.
The infrared reflex: a potential new method for congenital cataract screening.
Eye (Lond)
; 33(12): 1865-1870, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31267092
6.
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Hum Mutat
; 21(2): 169, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12552565
7.
Different paths to sexual size dimorphism in two praying mantids, Pseudomantis albofimbriata and Hierodula majuscula.
Insect Sci
; 21(2): 227-33, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23956112
8.
Congenital unilateral corneal anaesthesia with microphthalmos: a case report.
Case Rep Ophthalmol Med
; 2012: 703183, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22606500
9.
A new perimeter using the preferential looking response to assess peripheral visual fields in young and developmentally delayed children.
J AAPOS
; 16(3): 261-5, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22681943