Detalhe da pesquisa
1.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33910932
2.
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Int J Mol Sci
; 22(6)2021 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33799353
3.
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Hum Mutat
; 40(12): 2365-2376, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31397521
4.
Second Allele Finder Software: a Simple Approach Toward HLA Typing.
Clin Lab
; 62(10): 2045-2051, 2016 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28164527
5.
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.
Invest Ophthalmol Vis Sci
; 63(5): 27, 2022 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35608844
6.
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Cells
; 11(22)2022 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36429068
7.
Long-read technologies identify a hidden inverted duplication in a family with choroideremia.
HGG Adv
; 2(4): 100046, 2021 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35047838
8.
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
NPJ Genom Med
; 6(1): 97, 2021 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34795310
9.
Identification and Analysis of Genes Associated with Inherited Retinal Diseases.
Methods Mol Biol
; 1834: 3-27, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30324433
10.
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Mol Genet Genomic Med
; 7(6): e660, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30950243