Author/Creator: Grangeia, Ana - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Grangeia, Ana

1. A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens. Issue 3 (May 2021)

Authors:: Torres-Costa, Sónia; Ferreira, Carla Sofia; Grangeia, Ana; Santos-Silva, Renato; Brandão, Elisete; Estrela-Silva, Sérgio; Falcão-Reis, Fernando
Journal:: European journal of ophthalmology
Issue:: Volume 31:Issue 3(2021)
Page Start:: NP74
Record Type:: Journal Article
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2. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. (2nd September 2020)

Authors:: Godinho, Gonçalo; Madeira, Carolina; Grangeia, Ana; Neves-Cardoso, Pedro; Santos-Silva, Renato; Brandão, Elisete; Carneiro, Ângela; Falcão-Reis, Fernando; Estrela-Silva, Sérgio
Journal:: Ophthalmic genetics
Issue:: Volume 41:Number 5(2020)
Page Start:: 474
Record Type:: Journal Article
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3. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. (2nd September 2020)

Authors:: Godinho, Gonçalo; Madeira, Carolina; Grangeia, Ana; Neves-Cardoso, Pedro; Santos-Silva, Renato; Brandão, Elisete; Carneiro, Ângela; Falcão-Reis, Fernando; Estrela-Silva, Sérgio
Journal:: Ophthalmic genetics
Issue:: Volume 41:Number 5(2020)
Page Start:: 474
Record Type:: Journal Article
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4. Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant. Issue 1 (January 2022)

Authors:: Esteves-Leandro, João; Torres-Costa, Sónia; Estrela-Silva, Sérgio; Santos-Silva, Renato; Brandão, Elisete; Grangeia, Ana; Fernandes, Susana; Oliveira, Renata; Falcão-Reis, Fernando; Rocha-Sousa, Amândio
Journal:: European journal of ophthalmology
Issue:: Volume 32:Issue 1(2022)
Page Start:: 664
Record Type:: Journal Article
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5. Congenital myopathies in adults: A diagnosis not to overlook. (12th May 2022)

Authors:: Pinto, Maria João; Passos, Bárbara Alves; Grangeia, Ana; Guimarães, Joana; Braz, Luís
Journal:: Acta neurologica Scandinavica
Issue:: Volume 146:Number 2(2022)
Page Start:: 152
Record Type:: Journal Article
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6. Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study. Issue 1 (7th January 2023)

Authors:: Sousa, Beatriz; Grangeia, Ana; Pinto, Joel; Santos, Helena; Dória, Sofia
Journal:: Porto biomedical journal
Issue:: Volume 8:Issue 1(2023)
Page Start:: e198
Record Type:: Journal Article
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7. Wiedemann‐Steiner syndrome in two patients from Portugal. Issue 1 (11th November 2019)

Authors:: Grangeia, Ana; Leão, Miguel; Moura, Carla P.
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 1(2020)
Page Start:: 25
Record Type:: Journal Article
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