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TITLE: Genetic profile of syndromic retinitis pigmentosa in Portugal  Full Text
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
INDEXED IN: Scopus WOS
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TITLE: Bilateral functional worsening following voretigene neparvovec therapy  Full Text
AUTHORS: Neves, Emmanuel Rebelo; Carvalho, Ana Luisa; Mesquita, Teresa; Paiva, Catarina; Alfaiate, Mario; Figueira, Joao; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: EYE
INDEXED IN: Scopus WOS
4
TITLE: Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort  Full Text
AUTHORS: Geada, Sara; Teixeira Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luisa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, Rufino; Zanlonghi, Xavier; Defoort Dhellemmes, Sabine; Smirnov, Vasily; Dhaenens, Claire Marie; Blanchet, Catherine; Meunier, Isabelle; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: GENETIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH CYP1B1 GENE BIALLELIC VARIANTS  Full Text
AUTHORS: Lima Caldeira, Gladys Tarcila; Carvalho, Ana Luisa; Egas, Conceicao; Sobral, Isa; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: From Temporal Cell Arteritis to Giant Cell Aortitis Presenting as a Constitutional Syndrome: A Case Report
AUTHORS: Lopes, Marta; Rocha, Marta; Fonseca, Marta; Monteiro, Ana;
PUBLISHED: 2023, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 15, ISSUE: 1
INDEXED IN: WOS
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TITLE: EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM
AUTHORS: Soares, Ricardo; Carvalho, Ana; Simao, Silvia; Soares, Celia ; Raimundo, Miguel; Alves, Henrique; Ambrosio, Antonio; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao;
PUBLISHED: 2023, SOURCE: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO) in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 64, ISSUE: 8
INDEXED IN: WOS
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TITLE: Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa  Full Text
AUTHORS: Marques, Joao Pedro; Neves, Emmanuel; Geada, Sara; Carvalho, Ana Luisa; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino;
PUBLISHED: 2022, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
INDEXED IN: Scopus WOS
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