Detalhe da pesquisa
1.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Am J Med Genet A
; 185(7): 2204-2210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938610
2.
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Hum Mutat
; 36(1): 43-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363634
3.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
4.
Long-term outcomes of vitrectomy for proliferative diabetic retinopathy.
Acta Ophthalmol
; 99(1): 83-89, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643273