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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
2
TITLE: The socioeconomic epidemiology of inherited retinal diseases in Portugal
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
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: Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
AUTHORS: Ângela Pereira; Jorge Diogo da Silva; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; Célia Azevedo Soares; Isabel Nunes; Ana Maria Fortuna; Dulce Quelhas; Sónia Figueiroa; Rosa Ribeiro; Manuela Santos; Esmeralda Martins; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
INDEXED IN: CrossRef
IN MY: ORCID
7
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
8
TITLE: Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei
AUTHORS: Silva, JS; Alves, JE; Soares, CA; Tkachenko, N; Garrido, C;
PUBLISHED: 2022, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 31, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
9
TITLE: The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community
AUTHORS: Riccardi, F; Marcinkute, R; Soares, CA; Calapod, PS; Cerqueira, JM; Avram, E; Ding, C;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: 3
INDEXED IN: WOS CrossRef: 2
IN MY: ORCID
10
TITLE: Case report: fetal malformations and 3P22.2P21.2 Deletion
AUTHORS: Barros, T.; Soares, C.; Andrade, A.; Moreira, C.; Guedes Martins, L.; Braga, J.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, VOLUME: 270
INDEXED IN: WOS CrossRef
IN MY: ORCID
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