Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
2.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
3.
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Ophthalmic Res
; 67(1): 107-114, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016437
4.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Case Rep Ophthalmol
; 15(1): 230-237, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500542
5.
[Protection of working mothers: operational guide document. The Marche Regional Section of the Italian Society of Occupational Health and Industrial Hygiene (SIMLII) ]. / Tutela delle lavoratrici madri: documento di indirizzo operativo.
Med Lav
; 104(4): 319-28, 2013.
Artigo
em Italiano
| MEDLINE | ID: mdl-24228309
6.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
; 2(3): pgad043, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909829
7.
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ Genom Med
; 7(1): 60, 2022 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266294
8.
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Sci Rep
; 11(1): 19332, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588515