Detalhe da pesquisa
1.
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Retina
; 41(10): 2179-2187, 2021 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33512896
2.
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.
BMC Ophthalmol
; 21(1): 289, 2021 Jul 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34320936
3.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32307445
4.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785
5.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Am J Ophthalmol
; 246: 107-121, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36099972
6.
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Am J Ophthalmol
; 256: 186-195, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37422204
7.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
; 63(4): 20, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35475888
8.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34188062
9.
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Acta Ophthalmol
; 97(6): e877-e886, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30925032
10.
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
Sci Rep
; 9(1): 12047, 2019 08 19.
Artigo
Inglês
| MEDLINE | ID: mdl-31427709
11.
Elschnig's spots in the acute and remission stages in preeclampsia: spectral-domain optical coherence tomographic features.
Eur J Ophthalmol
; 25(5): e84-7, 2015 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-25743779