المؤلفون: Tânia Lopes, Cristina Duarte Madureira, Ana Raquel Moreira, Susana Gama de Sousa, Paula Fonseca

المصدر: Ecos do Minho, Vol 12, Iss 1, Pp 21-26 (2017)

مصطلحات موضوعية: Hipotiroidismo, Tiroidite de Hashimoto, Alopécia Areata, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://apminho.com/images/pdf/2017/05.Hipotiroidismo%20e%20alop%C3%A9cia%20areata_coincid%C3%AAncia%20ou%20consequ%C3%AAncia.pdf; https://doaj.org/toc/1646-4745

URL الوصول: https://doaj.org/article/ce2972ae7da0433e8fe0f3acadd8df88

المؤلفون: Ana Raquel Moreira, Cláudia Melo, Cláudia Fontes, Susana Gama de Sousa, Sara Figueiredo, Cecília Martins

المصدر: Ecos do Minho, Vol 9, Iss 1, Pp 33-36 (2014)

مصطلحات موضوعية: Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://apminho.com/images/pdf/2014/06.Forma%20at%C3%ADpica%20da%20S%C3%ADndrome%20de%20Cri-du-Chat%20%E2%80%93%20caso%20cl%C3%ADnico.pdf; https://doaj.org/toc/1646-4745

URL الوصول: https://doaj.org/article/954e61ab08ce485da963f8669d13a389

المؤلفون: Susana Gama de Sousa, Henrique Barros

المصدر: Revista Portuguesa de Pneumologia, Vol 16, Iss 4, Pp 573-588 (2010)

مصطلحات موضوعية: Tosse convulsa, coqueluche, Bordetella pertussis, vacinação, modelos matemáticos, pertussis, vaccination, Portugal, mathematical models, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.scielo.oces.mctes.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000400005; https://doaj.org/toc/0873-2159

URL الوصول: https://doaj.org/article/ad0c57e1d307447ab60cd92a3d420852

المؤلفون: Susana Gama de Sousa, Henrique Barros

المصدر: Revista Portuguesa de Pneumologia, Vol 16, Iss 4, Pp 573-588 (2010)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0873215915300532; https://doaj.org/toc/0873-2159

URL الوصول: https://doaj.org/article/9ce03967236545e1864206b4d7d3274b

المؤلفون: Joana Freitas, Susana Gama de Sousa, Cristina Miguel, Paula Fonseca

المصدر: Revista Portuguesa de Pneumologia, Vol 16, Iss 2, Pp 315-320 (2010)

مصطلحات موضوعية: Pertussis, tosse convulsa, vacinação, whooping cough, vaccination, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.scielo.oces.mctes.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000200009; https://doaj.org/toc/0873-2159

URL الوصول: https://doaj.org/article/bb7ea78944444110958881b9b0f94c64

المؤلفون: Joana Freitas, Susana Gama de Sousa, Cristina Miguel, Paula Fonseca

المصدر: Revista Portuguesa de Pneumologia, Vol 16, Iss 2, Pp 315-320 (2010)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0873215915300295; https://doaj.org/toc/0873-2159

URL الوصول: https://doaj.org/article/a46e43fdb35246ca8cf433cb3d112985

المؤلفون: Joana Chaves Rebelo, Felisbela Rocha, Susana Gama de Sousa, Paulo Teixeira

المصدر: Brazilian Journal of Nephrology, Vol 34, Iss 3, Pp 291-292 (2012)

مصطلحات موضوعية: adolescente, glicosúria renal, transportador 2 de glucose-sódio, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002012000300013&lng=en&tlng=en; https://doaj.org/toc/2175-8239

URL الوصول: https://doaj.org/article/6676cd40c3a04deaa17bd38b8c691a6a

المؤلفون: Maria Inês, Alvelos, Ângela, Francisco, Leonor, Gomes, Isabel, Paiva, Miguel, Melo, Pedro, Marques, Susana, Gama-de-Sousa, Sofia, Carreiro, Telma, Quintela, Isabel, Gonçalves, Manuel Carlos, Lemos

المصدر: Pituitary. 24(3)

مصطلحات موضوعية: Arginine Vasopressin, Diabetes Insipidus, Neurogenic, Neurophysins, Polyuria, Vasopressins, Mutation, Diabetes Mellitus, Humans, Polydipsia, Diabetes Insipidus, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6aae0e1623ec81b4e8ff9c1dfc04f708
https://pubmed.ncbi.nlm.nih.gov/33433888

المؤلفون: Catarina I Gonçalves, Leonor Gomes, Joana T Almeida, Carla Baptista, Daniela Guelho, Miguel Melo, Isabel Dinis, Maria Manuela Estima Gomes, Joana Saraiva, Manuel C. Lemos, Maria Inês Alvelos, Sofia Martins, Luísa Barros, Diana Martins, Alice Mirante, Margarida Bastos, Carolina Moreno, Eduarda Coutinho, Mara Ventura, Maria L Sampaio, Bernardo Dias Pereira, Susana Gama-de-Sousa

المصدر: Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020)
Journal of Clinical Medicine
Volume 9
Issue 1

مصطلحات موضوعية: MODY 1, endocrine system, mody, MODY 2, MODY 3, lcsh:Medicine, 030209 endocrinology & metabolism, medicine.disease_cause, Maturity onset diabetes of the young, Article, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, medicine, genetics, Family history, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, diabetes, business.industry, lcsh:R, General Medicine, medicine.disease, 3. Good health, HNF1A, mutation, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec33e40cfc3fad20f64560e575169435
https://www.mdpi.com/2077-0383/9/1/288

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/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0
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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027bace
https://hdl.handle.net/10216/139000