Detalhe da pesquisa
1.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468396
2.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
3.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 107(3): 580, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888510
4.
Cyclic Esotropia Managed With Botulinum A Toxin Injections: A Report of Four Cases and Literature Review.
Cureus
; 15(9): e46266, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908945
5.
Aberrant regeneration in an international registry of patients with 3rd-nerve palsy.
Eur J Ophthalmol
; 33(6): 2154-2161, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265190
6.
Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3rd-Nerve Palsy.
Am J Ophthalmol
; 242: 165-172, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750218
7.
Accuracy of formulae for secondary intraocular lens power calculations in pediatric aphakia.
J Curr Ophthalmol
; 29(3): 199-203, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913511