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TITLE: CERKL-associated retinal degeneration in Portugal: Mutational spectrum and retinal phenotypes
AUTHORS: Catarina Pestana Aguiar; Lilianne Duarte; Célia Azevedo Soares ; Pedro Marques Couto; Sérgio Estrela Silva; Ana Luísa Carvalho; João Pedro Marques;
PUBLISHED: 2025, SOURCE: AJO International, VOLUME: 2, ISSUE: 2
INDEXED IN: Scopus CrossRef
IN MY: ORCID
3
TITLE: Autism spectrum disorder and PTEN hamartoma tumor syndrome Ó? Child and adolescent psychiatric perspective
AUTHORS: Marta P. Antunes; Natália Tkachenko; Ana R Soares; Graça Fernandes; Ana M Fortuna; Célia Azevedo-Soares ;
PUBLISHED: 2024, SOURCE: Portuguese Journal of Pediatrics, VOLUME: 55, ISSUE: 2
INDEXED IN: CrossRef
IN MY: ORCID
4
TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication  Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla ; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo ;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
5
TITLE: Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases  Full Text
AUTHORS: Marta, Ana; André Ferreira; Couto, Ines; Neves, Miguel Mesquita; Gomes, Miguel; Oliveira, Luis ; Soares, Celia Azevedo ; Meneres, Maria Joao; Lemos, Carolina ; Beirao, Joao Melo;
PUBLISHED: 2024, SOURCE: CLINICAL OPHTHALMOLOGY, VOLUME: 18
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: The socioeconomic epidemiology of inherited retinal diseases in Portugal  Full Text
AUTHORS: Marta, Ana; Marques, Joao Pedro; Santos, Cristina; Coutinho Santos, Luisa; Vaz Pereira, Sara; Costa, Jose; Arede, Pedro; Felix, Raquel; Geada, Sara; Gouveia, Nuno; Silva, Rui; Baptista, Margarida; Lume, Miguel; Parreira, Ricardo; Azevedo Soares, Celia ; Meneres, Maria Joao; Lemos, Carolina ; Melo Beirao, Joao;
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
7
TITLE: The Visual Impairment of Inherited Retinal Diseases in Portugal as per the National Table of Disabilities
AUTHORS: Marta, Ana; Miranda, Vasco; Lume, Miguel; Parreira, Ricardo; Soares, Celia Azevedo ; Meneres, Maria Joao; Lemos, Carolina; Beirao, Joao Melo;
PUBLISHED: 2024, SOURCE: OPHTHALMOLOGY SCIENCE, VOLUME: 4, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
8
TITLE: Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
AUTHORS: Da Silva, Jorge Diogo; Pereira, Angela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Marcio; Garrido, Cristina; Soares, Celia Azevedo ; Nunes, Isabel Serra; Fortuna, Ana Maria; Quelhas, Dulce ; Figueiroa, Sonia; Ribeiro, Rosa; Santos, Manuela; Martins, Esmeralda ; Tkachenko, Nataliya ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RESEARCH
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
9
TITLE: Eyes Shut Homolog-Associated Retinal Degeneration
AUTHORS: Ricardo Machado Soares; Ana Luísa Carvalho; Sílvia Simão; Célia Azevedo Soares ; Miguel Raimundo; Henrique H Alves; António Francisco Ambrósio; Joaquim Murta; Jorge Saraiva; Rufino Silva; João Pedro Marques;
PUBLISHED: 2023, SOURCE: Ophthalmology Retina, VOLUME: 7, ISSUE: 7
INDEXED IN: CrossRef: 4
IN MY: ORCID
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