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1.
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
J Hum Genet
; 65(5): 487-491, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32015378
2.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30902645
3.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
NPJ Genom Med
; 6(1): 18, 2021 Feb 23.
Article
in English
| MEDLINE | ID: mdl-33623043
4.
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
NPJ Genom Med
; 6(1): 25, 2021 Mar 25.
Article
in English
| MEDLINE | ID: mdl-33767182
5.
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Am J Ophthalmol
; 207: 204-214, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31129250
6.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Invest Ophthalmol Vis Sci
; 59(6): 2345-2354, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29847639
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