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1دورية أكاديمية
المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
مصطلحات موضوعية: CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1135-0Test; https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Developmental disabilities in females, FMR1 methylated full mutation, Fragile-X syndrome, Skewing of X-chromosome inactivation, Xq28 deletion, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0589-6Test; https://doaj.org/toc/1471-2350Test
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3دورية أكاديمية
المؤلفون: Mafalda Barbosa, Bram Perdu, Virgílio Senra, Filipe Macedo, Wim Van Hul, Margarida Reis-Lima, Jorge Pinto-Basto
المصدر: Acta Médica Portuguesa, Vol 23, Iss 6 (2010)
مصطلحات موضوعية: Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/734Test; https://doaj.org/toc/0870-399XTest; https://doaj.org/toc/1646-0758Test
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4مؤتمر
المؤلفون: Sofia Pimenta, Margarida Peixoto, Margarida Reis Lima, Natália Salgueiro, Marta Vila Real, Fátima Santos
مصطلحات موضوعية: Rett syndrome, development regression
العلاقة: https://zenodo.org/record/4958770Test; https://doi.org/10.5281/zenodo.4958770Test; oai:zenodo.org:4958770
الإتاحة: https://doi.org/10.5281/zenodo.4958770Test
https://doi.org/10.5281/zenodo.4958769Test
https://zenodo.org/record/4958770Test -
5دورية أكاديمية
المؤلفون: Ermelinda Santos Silva, Latira Soares, Carmen Carvalho, Carmen Santos, Eugénio Valente, Margarida Reis Lima
المصدر: Portuguese Journal of Pediatrics, Vol 29, Iss 6 (2014)
مصطلحات موضوعية: Síndroma Trico-Rino-Falângico (STRF Tipo I), Síndroma de Langer-Gideon (STRF Tipo II), Microdelecção 8q24, Pediatrics, RJ1-570, Medicine (General), R5-920
العلاقة: https://pjp.spp.pt//article/view/5649Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/611af0220d6f47b391a3b92874339ff1Test
الإتاحة: https://doi.org/10.25754/pjp.1998.5649Test
https://doaj.org/article/611af0220d6f47b391a3b92874339ff1Test -
6دورية أكاديمية
المؤلفون: Filipe Pinheiro Torres, Virgílio Oliveira, José Carlos Palha, António Almada, Margarida Reis Lima, Pombeiro Veloso
المصدر: Portuguese Journal of Pediatrics, Vol 26, Iss 4 (2014)
مصطلحات موضوعية: Sindroma de Freeman-Sheldon, Pediatrics, RJ1-570, Medicine (General), R5-920
العلاقة: https://pjp.spp.pt//article/view/5915Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/ab999c33f4174189b52ed3c003a8ac70Test
الإتاحة: https://doi.org/10.25754/pjp.1995.5915Test
https://doaj.org/article/ab999c33f4174189b52ed3c003a8ac70Test -
7دورية أكاديمية
المؤلفون: Dulce Oliveira, Cristina Figueiredo, Fátima Madruga, Céu R. Mota, Margarida Guedes, A. M. Machado, Paula Soares, Margarida Reis Lima
المصدر: Portuguese Journal of Pediatrics, Vol 28, Iss 3 (2014)
مصطلحات موضوعية: Polimalformativo, S. assimetria facial, choro, Pediatrics, RJ1-570, Medicine (General), R5-920
العلاقة: https://pjp.spp.pt//article/view/5700Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/49ba9a7bbed84430885b222662a288f6Test
الإتاحة: https://doi.org/10.25754/pjp.1997.5700Test
https://doaj.org/article/49ba9a7bbed84430885b222662a288f6Test -
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المؤلفون: Margarida Reis-Lima, Daniel Mera Fernández, Elisabet Lloveras, Laura Barranco, Meritxell Piqué, Nuria Palau, Vania Ventura, Diana Yeste, Anna Canellas, Cristina de la Iglesia, Cristina Perez, Marta Vila-Real, Claudia Alves, Marta Costa, Marc Auge, Begona Mendez
المصدر: Cytogenetic and genome research. 159(3)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Microcephaly, Chromosomal rearrangement, Biology, Corpus callosum, AKT3, Corpus Callosum, 03 medical and health sciences, Seizures, Genetics, medicine, Rare syndrome, Humans, Child, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Chromosome, Karyotype, medicine.disease, Hypotonia, Chromosomes, Human, Pair 1, medicine.symptom, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02800364e63d75744a6c30111d310012Test
https://pubmed.ncbi.nlm.nih.gov/31830750Test -
9
المؤلفون: Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá
المساهمون: Instituto de Investigação e Inovação em Saúde, Human genetics, Pathology, Universidade do Minho
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0Test, https://doi.org/10.1186/s13023-019-1135-0Test
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genotype-phenotype correlation, endocrine system diseases, Medicina Básica [Ciências Médicas], Neurodevelopment, lcsh:Medicine, Disease, 030105 genetics & heredity, 0302 clinical medicine, Intellectual disability, Pharmacology (medical), Copy-number variation, Genetics (clinical), Genetics, Comparative Genomic Hybridization, General Medicine, Genomics, Phenotype, 3. Good health, Pedigree, Ciências Médicas::Medicina Básica, Female, DNA Copy Number Variations, Copy number analysis, Biology, Histone-Lysine N-Methyltransferase / genetics, 03 medical and health sciences, DNA Copy Number Variations / genetics, Intellectual Disability, mental disorders, medicine, Humans, Intellectual Disability / genetics, Genetic Association Studies, CNVs, Chromosome Aberrations, Science & Technology, Research, lcsh:R, Histone-Lysine N-Methyltransferase, medicine.disease, Human genetics, CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Etiology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027baceTest
https://hdl.handle.net/10216/139000Test -
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المؤلفون: Rosário Santos, Jacinta Fonseca, Helena Barreto dos Santos, Bárbara Rodrigues, Elsa Garcia, Margarida Reis-Lima, Vincenzo Cirigliano, Ana L. Gonçalves, Isabel Marques, Nuno Maia, Cecília Correia, Gabriela Soares, Paula Jorge
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, lcsh:QH426-470, Case Report, Biology, medicine.disease_cause, X-inactivation, 03 medical and health sciences, Fragile X Mental Retardation Protein, X Chromosome Inactivation, Fragile-X syndrome, Genetics, medicine, Humans, Genetic Testing, Allele, lcsh:RC31-1245, Genetics (clinical), Xq28 deletion, Genetic testing, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Developmental disabilities in females, Mutation, Chromosomes, Human, X, medicine.diagnostic_test, Skewing of X-chromosome inactivation, Infant, Genomics, DNA Methylation, medicine.disease, FMR1, Human genetics, 3. Good health, Pedigree, Fragile X syndrome, lcsh:Genetics, 030104 developmental biology, Fragile X Syndrome, FMR1 methylated full mutation, Paternal Inheritance, XIST, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ec4fa61726b33b785b50b638686799Test
http://europepmc.org/articles/PMC5946481Test