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1دورية أكاديمية
المؤلفون: Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira
المصدر: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 05, Pp 001-008 (2024)
مصطلحات موضوعية: Neuronal Ceroid Lipofuscinoses, Neurodegenerative Diseases, Epilepsy, Diagnosis, Lipofuscinoses Ceroides Neuronais, Doenças Neurodegenerativas, Epilepsia, Diagnóstico, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
المصدر: Biomolecules, Vol 14, Iss 3, p 367 (2024)
مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance, Microbiology, QR1-502
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Inherited Retinal Dystrophies (IRDs), Leber Congenital Amaurosis, Brazilian Public Health System, Stargardt's Disease (STGD), Bietti Crystalline Dystrophy, Medicine, Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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4دورية أكاديمية
المصدر: Psicologia: Teoria e Pesquisa, Vol 35, Iss spe (2019)
مصطلحات موضوعية: retinopatia da prematuridade, deficiência visual, relações pais-filho, Psychology, BF1-990
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-37722019000200205&tlng=ptTest; http://www.scielo.br/pdf/ptp/v35nspe/1806-3446-ptp-35-e35nspe5.pdfTest; https://doaj.org/toc/1806-3446Test
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5دورية أكاديمية
المصدر: International Journal of Retina and Vitreous, Vol 4, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Autoantibodies, Recoverin, Immunosuppression, Retinal cone photoreceptor cells, Rod cell outer segment, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40942-017-0104-9Test; https://doaj.org/toc/2056-9920Test
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6دورية أكاديمية
المؤلفون: Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
المصدر: International Journal of Retina and Vitreous, Vol 3, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Retinitis pigmentosa, Retinal dystrophies genes, Next generation sequencing, Illumina platform, Molecular diagnosis, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40942-017-0087-6Test; https://doaj.org/toc/2056-9920Test
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7دورية أكاديمية
المؤلفون: Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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8دورية أكاديمية
المؤلفون: Mariana Matioli da Palma, Fabiana Louise Motta, Mariana Vallim Salles, Caio Henrique Marques Texeira, André V. Gomes, Ricardo Casaroli-Marano, Juliana Maria Ferraz Sallum
المصدر: Genes, Vol 12, Iss 5, p 713 (2021)
مصطلحات موضوعية: bietti crystalline dystrophy, CYP4V2 protein, genetic testing, missense mutation, insertion-deletion mutation, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: José Luiz Pedroso, Priscilla Proveti, Luiz Fernando Teixeira, Juliana Maria Ferraz Sallum, Orlando G. P. Barsottini
المصدر: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 10, Pp 816-817 (2014)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000816&lng=en&tlng=enTest; https://doaj.org/toc/1678-4227Test
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10
المؤلفون: Orlando Graziani Póvoas Barsottini, Juliana Maria Ferraz Sallum, Eduardo Cunha de Souza, Flávio Moura Rezende Filho, Chandrakumar Balaratnasingam, Jose S. Pulido, Mauro Goldbaum, Luiz H. Lima, José Luiz Pedroso
المصدر: RETINAL Cases & Brief Reports. 15:S7-S10
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, business.industry, Nerve fiber layer, Retinal, General Medicine, Asymptomatic, Retina, Ophthalmology, chemistry.chemical_compound, Nerve Fibers, Text mining, medicine.anatomical_structure, chemistry, medicine, Humans, Thickening, medicine.symptom, business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052675131ece226fa4bf968bd8ab37b5Test
https://doi.org/10.1097/icb.0000000000001171Test