Celia A. Soares

Porto, Portugal

Last Updated: 09/26/2026

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Found 13 publications

Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.

Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.

Journal: Clinical & experimental ophthalmology
Published: February 10, 2026

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Journal: Clinical genetics
Published: September 25, 2024

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Journal: NPJ genomic medicine
Published: August 05, 2024

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Journal: Pediatric research
Published: May 20, 2023

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Published: May 04, 2023

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.

Journal: Ophthalmology. Retina
Published: November 03, 2022

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

Journal: JBRA assisted reproduction
Published: August 02, 2022

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Journal: Genes
Published: November 19, 2021

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Journal: Clinical genetics
Published: April 26, 2021

The Role of the European Society of Human Genetics in Delivering Genomic Education.

The Role of the European Society of Human Genetics in Delivering Genomic Education.

Journal: Frontiers in genetics
Published: April 12, 2021

Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program?

Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program?

Journal: Acta medica portuguesa
Published: June 24, 2020

Distinct timing of neurogenesis of ipsilateral and contralateral retinal ganglion cells.

Distinct timing of neurogenesis of ipsilateral and contralateral retinal ganglion cells.

Journal: The Journal of comparative neurology
Published: July 31, 2017
Showing 1-12 of 13

Last Updated: 09/26/2026